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Article

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

Journal of dermatological science - 1 May 2006

Badens Catherine, Courrier Sébastien, Aquaron Robert

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Identifiers

PMID: 16517127
DOI: 10.1016/j.jdermsci.2006.01.007

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Related research

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A novel mutation (delAACT) in the tyrosinase gene in a Cameroonian black with type 1A oculocutaneous albinism.PMID 16517127Read ↗

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

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

Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1.Semantic proximity Read ↗

Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism.Semantic proximity Read ↗

Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.Semantic proximity Read ↗

DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.Semantic proximity Read ↗

Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani familiesSemantic proximity Read ↗

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

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

Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.Semantic proximity Read ↗

Identification of TYR mutations in patients with oculocutaneous albinism.Semantic proximity Read ↗

Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism.Semantic proximity Read ↗

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