Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility (Q24304339)

GOA release 2020-03-11

keratinocyte development

1 reference

GOA release 2020-03-11

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9

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Michael Simpson

object named as

Michael A Simpson

4

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John Mcgrath

1

object named as

John A McGrath

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Jemima Mellerio

12

object named as

Jemima E Mellerio

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author name string

Kristina L Stone

2

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Rumena Begum

3

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Patricia J Dopping-Hepenstal

5

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Lu Liu

6

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James R McMillan

7

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Andrew P South

8

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W H Irwin McLean

10

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Anna E Martinez

American Journal of Human Genetics

11

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language of work or name

English

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publication date

7 December 2012

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published in

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volume

91

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issue

6

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page(s)

1115-21

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cites work

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Rab27b is expressed in a wide range of exocytic cells and involved in the delivery of secretory granules near the plasma membrane

27 September 2017

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Rab27b regulates number and secretion of platelet dense granules

27 September 2017

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27 September 2017

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Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene

27 September 2017

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