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Article

Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism.

The New England journal of medicine - 14 Jun 1990

Spritz R A, Strunk K M, Giebel L B, King R A

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PMID: 2342539
DOI: 10.1056/NEJM199006143222407

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Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism.PMID 2342539Read ↗

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

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

Mutation analysis of the tyrosinase gene in oculocutaneous albinism.Semantic proximity Read ↗

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

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

Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism.Semantic proximity Read ↗

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

Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.Semantic proximity Read ↗

A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.Semantic proximity Read ↗

The molecular basis of type I (tyrosinase-deficient) human oculocutaneous albinism.Semantic proximity Read ↗

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

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

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