(Q45239559)

11 December 2017

Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient (English)

1 reference

11 December 2017

1 reference

oculocutaneous albinism

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Caroline Rooryck

1

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author name string

Christel Roudaut

2

1 reference

11 December 2017

Eulalie Robine

3

1 reference

11 December 2017

Jörg Müsebeck

4

1 reference

11 December 2017

Benoît Arveiler

5

1 reference

11 December 2017

1 June 2006

1 reference

Pigment Cell & Melanoma Research

11 December 2017

1 reference

11 December 2017

19

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11 December 2017

239-242

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11 December 2017

3

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Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair

11 December 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2006.00298.X

Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2006.00298.X

Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2006.00298.X

MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2006.00298.X

Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2006.00298.X

In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2006.00298.X

Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2006.00298.X

Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2006.00298.X

Mutational analysis of copper binding by human tyrosinase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2006.00298.X

10.1111/J.1600-0749.2006.00298.X

21 January 2018

Identifiers

DOI

1 reference

11 December 2017

1 reference