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

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Citation

Spritz RA, Oh J, Fukai K, Holmes SA, Ho L, Chitayat D, France TD, Musarella MA, Orlow SJ, Schnur RE, Weleber RG, Levin AV

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

Hum Mutat. 1997;10(2):171-4.

PubMed ID
9259202 [ View in PubMed
]
Abstract

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Polypeptides
NameUniProt ID
TyrosinaseP14679Details