(Q45345288)

13 December 2017

SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism (English)

1 reference

13 December 2017

Caroline Rooryck

5

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Dominique Bonneau

object named as

Dominique Bonneau

8

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Didier Lacombe

object named as

Didier Lacombe

13

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Fanny Morice-Picard

1

object named as

Fanny Morice-Picard

1 reference

13 December 2017

Eulalie Lasseaux

2

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13 December 2017

Stéphane François

3

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13 December 2017

Delphine Simon

4

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13 December 2017

Eric Bieth

6

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13 December 2017

Estelle Colin

7

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13 December 2017

Hubert Journel

9

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13 December 2017

Sophie Walraedt

10

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13 December 2017

Bart P Leroy

11

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13 December 2017

Francoise Meire

12

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13 December 2017

Benoit Arveiler

14

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13 December 2017

language of work or name

English

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publication date

28 August 2013

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Journal of Investigative Dermatology

13 December 2017

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13 December 2017

134

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13 December 2017

2

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13 December 2017

568-571

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https://scigraph.springernature.com/pub.10.1038/jid.2013.360

13 December 2017

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cites work

Characterization of the human RAB38 and RAB7 genes: exclusion of new major pathological loci for Japanese OCA.

1 reference

12 December 2020

Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism

1 reference

12 December 2020

Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism

1 reference

12 December 2020

SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans

1 reference

12 December 2020

Ocular albinism and hypopigmentation defects in Slc24a5-/- mice.

1 reference

12 December 2020

Albinism: hematologic-storage disease, susceptibility to skin cancer, and optic neuronal defects shared in all types of oculocutaneous and ocular albinism

1 reference

12 December 2020

A genomewide association study of skin pigmentation in a South Asian population

1 reference

12 December 2020

Genetics of pigmentary disorders

1 reference

12 December 2020

Molecular basis of albinism in India: evaluation of seven potential candidate genes and some new findings.

1 reference

12 December 2020

OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24

1 reference

12 December 2020

Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type

1 reference

12 December 2020

Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism

1 reference

12 December 2020

SLC24A5 encodes a trans-Golgi network protein with potassium-dependent sodium-calcium exchange activity that regulates human epidermal melanogenesis

1 reference

12 December 2020

Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis

1 reference

12 December 2020

Identifiers

DOI

10.1038/JID.2013.360

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Dimensions Publication ID

13 December 2017

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1 reference