GPR143Gene Mutation Analysis In Pediatric Patients With Albinism

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Molecular genetic analysis of patients with sporadic and X-linked infantile nystagmus Albinism: particular attention to the ocular motor system.

P2860

Q36773269-738E9C86-01BF-4797-803A-424AB58671F0 Q37133381-A68AFBD0-D199-4B3F-8D35-17D1D5E94F41

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GPR143Gene Mutation Analysis In Pediatric Patients With Albinism

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http://www.wikidata.org/entity/Q57715642

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article

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wetenschappelijk artikel

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наукова стаття, опублікована у квітні 2012

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GPR143Gene Mutation Analysis In Pediatric Patients With Albinism

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GPR143Gene Mutation Analysis In Pediatric Patients With Albinism

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GPR143Gene Mutation Analysis In Pediatric Patients With Albinism

@en

GPR143Gene Mutation Analysis In Pediatric Patients With Albinism

@nl

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GPR143Gene Mutation Analysis In Pediatric Patients With Albinism

@en

GPR143Gene Mutation Analysis In Pediatric Patients With Albinism

@nl

P1476

GPR143 gene mutation analysis in pediatric patients with albinism

@en

P2093

Branka Stirn Kranjc

http://www.w3.org/2001/XMLSchema#string

Tinka Hovnik

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Oculocutaneous albinism

The ocular albinism type 1 (OA1) G-protein-coupled receptor functions with MART-1 at early stages of melanogenesis to control melanosome identity and composition

Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

OA1 mutations and deletions in X-linked ocular albinism

A simple method for displaying the hydropathic character of a protein

Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism

X-linked ocular albinism: prevalence and mutations--a national study

The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells

Pre-mRNA splicing and human disease

Ocular albinism type 1: more than meets the eye.

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167-170

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P31

scholarly article

P356

10.3109/13816810.2011.559651

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P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Katarina Trebusak Podkrajsek

Tadej Battelino

Jernej Kovač

P577

2012-04-09T00:00:00Z

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P698

22486324

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GPR143Gene Mutation Analysis In Pediatric Patients With Albinism

about

P2860

P2860

GPR143Gene Mutation Analysis In Pediatric Patients With Albinism

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698