Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. (Q39831906)

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English	Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

19561605

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15 September 2017

title

Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. (English)

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Europe PubMed Central

PubMed publication ID

19561605

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15 September 2017

main subject

congenital disorder

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congenital dyserythropoietic anemia

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author

Karl-Peter Hopfner

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8

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Europe PubMed Central

PubMed publication ID

19561605

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15 September 2017

Roberta Russo

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10

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19561605

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Luigia De Falco

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Luigia De Falco

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13

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Markus Rojewski

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Markus T Rojewski

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16

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Barry H Paw

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Barry H Paw

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7

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Maria Rosaria Esposito

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Maria Rosaria Esposito

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11

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Rainer Pepperkok

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Rainer Pepperkok

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21

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Brigitte Joggerst

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15

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Brigitte Joggerst

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Europe PubMed Central

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19561605

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15 September 2017

author name string

Klaus Schwarz

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1

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19561605

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Achille Iolascon

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2

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19561605

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Fatima Verissimo

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3

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19561605

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Nikolaus S Trede

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4

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19561605

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Wyatt Horsley

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5

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19561605

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Wen Chen

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6

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19561605

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Karlheinz Holzmann

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9

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19561605

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Daniela Spano

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12

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19561605

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Katja Heinrich

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19561605

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Silverio Perrotta

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19561605

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Jonas Denecke

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19561605

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Ulrich Pannicke

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19561605

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Jean Delaunay

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19561605

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Hermann Heimpel

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22

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19561605

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language of work or name

English

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publication date

28 June 2009

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19561605

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15 September 2017

published in

Nature Genetics

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19561605

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15 September 2017

volume

41

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19561605

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issue

8

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19561605

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15 September 2017

page(s)

936-940

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19561605

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cites work

Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19561605

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12 December 2020

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inferred from PubMed ID database lookup

Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19561605

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inferred from PubMed ID database lookup

Interplay of pu.1 and gata1 determines myelo-erythroid progenitor cell fate in zebrafish

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19561605

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12 December 2020

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Dissection of the mammalian midbody proteome reveals conserved cytokinesis mechanisms.

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19561605

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12 December 2020

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Congenital dyserythropoietic anemia type II: molecular basis and clinical aspects

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19561605

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12 December 2020

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inferred from PubMed ID database lookup

SNARE selectivity of the COPII coat

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19561605

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12 December 2020

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inferred from PubMed ID database lookup

Protein structure modeling with MODELLER

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19561605

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12 December 2020

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inferred from PubMed ID database lookup

Proliferation Disturbances of Erythroblasts in Congenital Dyserythropoietic Anemia Type I and II

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19561605

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12 December 2020

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Structure of the Sec23/24-Sar1 pre-budding complex of the COPII vesicle coat

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19561605

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12 December 2020

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Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19561605

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12 December 2020

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Congenital dyserythropoietic anemias

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19561605

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12 December 2020

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inferred from PubMed ID database lookup

Multicolour imaging of post-Golgi sorting and trafficking in live cells

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19561605

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12 December 2020

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Coats, tethers, Rabs, and SNAREs work together to mediate the intracellular destination of a transport vesicle

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19561605

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12 December 2020

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The transport signal on Sec22 for packaging into COPII-coated vesicles is a conformational epitope

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19561605

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12 December 2020

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Beta-COP is essential for biosynthetic membrane transport from the endoplasmic reticulum to the Golgi complex in vivo

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https://pubmed.ncbi.nlm.nih.gov/19561605

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12 December 2020

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Congenital dyserythropoietic anemia with karyorrhexis and multinuclearity of erythroblasts

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19561605

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12 December 2020

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Autophagosome requires specific early Sec proteins for its formation and NSF/SNARE for vacuolar fusion

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https://pubmed.ncbi.nlm.nih.gov/19561605

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12 December 2020

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Characterization of the N-glycosylation phenotype of erythrocyte membrane proteins in congenital dyserythropoietic anemia type II (CDA II/HEMPAS).

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19561605

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12 December 2020

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Coordination of COPII vesicle trafficking by Sec23.

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https://pubmed.ncbi.nlm.nih.gov/19561605

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12 December 2020

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Bi-directional protein transport between the ER and Golgi

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https://pubmed.ncbi.nlm.nih.gov/19561605

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12 December 2020

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Clathrin and two components of the COPII complex, Sec23p and Sec24p, could be involved in endocytosis of the Saccharomyces cerevisiae maltose transporter

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https://pubmed.ncbi.nlm.nih.gov/19561605

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12 December 2020

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Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19561605

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12 December 2020

based on heuristic

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The genetic basis of a craniofacial disease provides insight into COPII coat assembly.

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19561605

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12 December 2020

based on heuristic

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Red-Cell Abnormalities in HEMPAS (Hereditary Erythroblastic Multinuclearity with a Positive Acidified-Serum Test)

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19561605

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12 December 2020

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Congenital dyserythropoietic anemias: a still unsolved puzzle

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19561605

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12 December 2020

based on heuristic

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Secretory COPII coat component Sec23a is essential for craniofacial chondrocyte maturation

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19561605

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): where are we now?

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19561605

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12 December 2020

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Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19561605

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12 December 2020

based on heuristic

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Cell-specific mitotic defect and dyserythropoiesis associated with erythroid band 3 deficiency.

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19561605

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12 December 2020

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Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19561605

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12 December 2020

based on heuristic

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Insights into COPII coat nucleation from the structure of Sec23.Sar1 complexed with the active fragment of Sec31

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19561605

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12 December 2020

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Erythroid differentiation and maturation from peripheral CD34+ cells in liquid culture: cellular and molecular characterization.

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/19561605

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12 December 2020

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Identifiers

DOI

10.1038/NG.405

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Europe PubMed Central

PubMed publication ID

19561605

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15 September 2017

Dimensions Publication ID

1019833706

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PubMed publication ID

19561605

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Europe PubMed Central

PubMed publication ID

19561605

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15 September 2017

ResearchGate publication ID

26325700

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