An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22. (Q50475186)

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scientific article published on 25 November 2004

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English	An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22.	scientific article published on 25 November 2004

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scholarly article

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Europe PubMed Central

PubMed publication ID

15668823

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14 March 2018

reference URL

http://europepmc.org/abstract/MED/15668823

title

An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22. (English)

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Europe PubMed Central

PubMed publication ID

15668823

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14 March 2018

reference URL

http://europepmc.org/abstract/MED/15668823

main subject

erythrokeratodermia variabilis

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author

Thomas J. Hudson

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5

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Europe PubMed Central

PubMed publication ID

15668823

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14 March 2018

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http://europepmc.org/abstract/MED/15668823

Régen Drouin

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6

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Régen Drouin

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Europe PubMed Central

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15668823

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14 March 2018

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http://europepmc.org/abstract/MED/15668823

Andrei Verner

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3

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Andrei Verner

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Europe PubMed Central

PubMed publication ID

15668823

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14 March 2018

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http://europepmc.org/abstract/MED/15668823

Alexandre Montpetit

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2

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Alexandre Montpetit

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Europe PubMed Central

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15668823

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14 March 2018

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http://europepmc.org/abstract/MED/15668823

Christian A Drouin

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7

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Christian A Drouin

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Europe PubMed Central

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15668823

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14 March 2018

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http://europepmc.org/abstract/MED/15668823

author name string

Thomas G Saba

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1

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Europe PubMed Central

PubMed publication ID

15668823

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14 March 2018

reference URL

http://europepmc.org/abstract/MED/15668823

Pierre Rioux

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4

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Europe PubMed Central

PubMed publication ID

15668823

retrieved

14 March 2018

reference URL

http://europepmc.org/abstract/MED/15668823

publication date

25 November 2004

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Europe PubMed Central

PubMed publication ID

15668823

retrieved

14 March 2018

reference URL

http://europepmc.org/abstract/MED/15668823

published in

Human Genetics

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Europe PubMed Central

PubMed publication ID

15668823

retrieved

14 March 2018

reference URL

http://europepmc.org/abstract/MED/15668823

volume

116

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Europe PubMed Central

PubMed publication ID

15668823

retrieved

14 March 2018

reference URL

http://europepmc.org/abstract/MED/15668823

issue

3

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Europe PubMed Central

PubMed publication ID

15668823

retrieved

14 March 2018

reference URL

http://europepmc.org/abstract/MED/15668823

page(s)

167-171

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Europe PubMed Central

PubMed publication ID

15668823

retrieved

14 March 2018

reference URL

http://europepmc.org/abstract/MED/15668823

cites work

Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15668823

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12 December 2020

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inferred from PubMed ID database lookup

Gap junctions and the connexin protein family

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15668823

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12 December 2020

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inferred from PubMed ID database lookup

Peroxisomal disorders

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15668823

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12 December 2020

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inferred from PubMed ID database lookup

Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15668823

retrieved

12 December 2020

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inferred from PubMed ID database lookup

Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15668823

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12 December 2020

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inferred from PubMed ID database lookup

The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15668823

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12 December 2020

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Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15668823

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12 December 2020

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inferred from PubMed ID database lookup

Palmoplantar keratoderma of Sybert

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15668823

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12 December 2020

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inferred from PubMed ID database lookup

Reticular erythrokeratoderma: a new disorder of cornification

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15668823

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12 December 2020

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BeadArray technology: enabling an accurate, cost-effective approach to high-throughput genotyping

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15668823

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12 December 2020

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inferred from PubMed ID database lookup

Clinical approach to inherited peroxisomal disorders: a series of 27 patients

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15668823

retrieved

12 December 2020

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inferred from PubMed ID database lookup

Atypical erythrokeratoderma with deafness, physical retardation and peripheral neuropathy

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15668823

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

5' flanking variants of resistin are associated with obesity

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15668823

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12 December 2020

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inferred from PubMed ID database lookup

Prospects for whole-genome linkage disequilibrium mapping of common disease genes

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15668823

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12 December 2020

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Congenital myopathy, recurrent secretory diarrhea, bullous eruption of skin, microcephaly, and deafness: a new genetic syndrome?

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15668823

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12 December 2020

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In vivo DNA analysis

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/15668823

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12 December 2020

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Successful use of long-term frozen lymphocytes for the establishment of lymphoblastoid cell lines

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15668823

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12 December 2020

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Connexin29 is uniquely distributed within myelinating glial cells of the central and peripheral nervous systems.

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15668823

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15668823

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/S00439-004-1193-8

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15668823

retrieved

14 March 2018

reference URL

http://europepmc.org/abstract/MED/15668823

Fatcat ID

release_qj5squ7kebca3cnsm6mbiviwli

1 reference

stated in

Fatcat

reference URL

https://api.fatcat.wiki/v0/release/qj5squ7kebca3cnsm6mbiviwli

retrieved

24 November 2022

based on heuristic

mapped directly with Wikidata item

PubMed publication ID

15668823

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15668823

retrieved

14 March 2018

reference URL

http://europepmc.org/abstract/MED/15668823

ResearchGate publication ID

8062560

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