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Article

[Oculocutaneous albinism 1B associated with a new mutation in the TYR gene].

Anales de pediatria (Barcelona, Spain : 2003) - 1 May 2013

Vidal-Ríos P, Fernández-Seara M J, Cortés E, Hurtado L, Couce M L

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Share to Albinism, Oculocutaneous
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23085315
DOI: 10.1016/j.anpedi.2012.09.006

Genes

TYR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

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[Oculocutaneous albinism 1B associated with a new mutation in the TYR gene].PMID 23085315Read ↗

Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1).Semantic proximity Read ↗

A novel mutation (delAACT) in the tyrosinase gene in a Cameroonian black with type 1A oculocutaneous albinism.Semantic proximity Read ↗

[Study on TYR gene variant from a pedigree with oculocutaneous albinism].Semantic proximity Read ↗

[Diagnosis of a case with oculocutaneous albinism type Ⅲ with next generation exome capture sequencing].Semantic proximity Read ↗

Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).Semantic proximity Read ↗

[An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals].Semantic proximity Read ↗

[Study of tyrosinase gene mutation in oculocutaneous albinism type 1 patients].Semantic proximity Read ↗

[Analysis of P gene variations among fourteen patients with oculocutaneous albinism type II].Semantic proximity Read ↗

A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene.Semantic proximity Read ↗

[Human oculocutaneous albinism. From clinical observation to molecular biology].Semantic proximity Read ↗

[Early prenatal genetic diagnosis of oculocutaneous albinism type I in seven families].Semantic proximity Read ↗

Novel mutations of the P gene in type II oculocutaneous albinism (OCA2).Semantic proximity Read ↗

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