Polymorphisms in the genes for oculocutaneous albinism type 1 and type 4 in the German population. (Q55043933)

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30 December 2019

title

Polymorphisms in the genes for oculocutaneous albinism type 1 and type 4 in the German population (English)

1 reference

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oculocutaneous albinism type 1

30 December 2019

main subject

1 reference

based on heuristic

inferred from title

author

Barbara Kasmann-Kellner

5

1 reference

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30 December 2019

author name string

Christine Zühlke

1

1 reference

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30 December 2019

Carolin Criée

2

1 reference

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30 December 2019

Timo Gemoll

3

1 reference

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30 December 2019

Thomas Schillinger

4

1 reference

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30 December 2019

publication date

1 June 2007

1 reference

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Pigment Cell & Melanoma Research

30 December 2019

published in

1 reference

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30 December 2019

volume

20

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30 December 2019

issue

3

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30 December 2019

page(s)

225-227

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Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism

30 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2007.00377.X

Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2007.00377.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.1600-0749.2007.00377.X

Establishment of tyrosinase sequence database in normally pigmented Indians and Japanese for rapid determination of novel mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2007.00377.X

Distinctive distribution of AIM1 polymorphism among major human populations with different skin color

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2007.00377.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.1600-0749.2007.00377.X

Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2007.00377.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.1600-0749.2007.00377.X

MATP polymorphisms in Germans and Japanese: the L374F mutation as a population marker for Caucasoids

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2007.00377.X

OCA4: evidence for a founder effect for the p.D157N mutation of the MATP gene in Japanese and Korean

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.2007.00377.X

10.1111/J.1600-0749.2007.00377.X

21 January 2018

Identifiers

DOI

1 reference

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30 December 2019

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