(Q28238670)

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

scientific article (publication date: February 2004)

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title

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

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main subject

oculocutaneous albinism

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oculocutaneous albinism type 4

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2

Christine Zühlke

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Uta Rundshagen

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1

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Sven Opitz

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3

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Eberhard Schwinger

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4

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Barbara Käsmann-Kellner

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5

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language of work or name

English

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publication date

February 2004

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published in

Human Mutation

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volume

23

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issue

2

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page(s)

106-10

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cites work

Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka

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21 January 2018

Some aspects of melanin biology: 1950-1975.

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21 January 2018

Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus

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reference URL

https://api.crossref.org/works/10.1002%2FHUMU.10311

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21 January 2018

Multiple hits during early embryonic development: digenic diseases and holoprosencephaly

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reference URL

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retrieved

21 January 2018

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

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reference URL

https://api.crossref.org/works/10.1002%2FHUMU.10311

retrieved

21 January 2018

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

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retrieved

21 January 2018

A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1002%2FHUMU.10311

retrieved

21 January 2018

A new allelic series for the underwhite gene on mouse chromosome 15.

1 reference

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retrieved

21 January 2018

The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1002%2FHUMU.10311

retrieved

21 January 2018

Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FHUMU.10311

retrieved

21 January 2018

Visual anomalies associated with albinism

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stated in

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reference URL

https://api.crossref.org/works/10.1002%2FHUMU.10311

retrieved

7 January 2021

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Identifiers

DOI

10.1002/HUMU.10311

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PubMed publication ID

14722913

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ResearchGate publication ID

8920003

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(Q28238670)

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

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