印度1型眼皮肤白化病患者中酪氨酸酶变体的分子与功能研究。 - Suppr

Molecular and functional studies of tyrosinase variants among Indian oculocutaneous albinism type 1 patients.

作者信息

Chaki Moumita, Sengupta Mainak, Mondal Maitreyee, Bhattacharya Abhisek, Mallick Shampa, Bhadra Ranjan, Ray Kunal

出版信息

J Invest Dermatol. 2011 Jan;131(1):260-2. doi: 10.1038/jid.2010.274. Epub 2010 Sep 23.

DOI:10.1038/jid.2010.274

PMID:20861851

Abstract

摘要

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Molecular and functional studies of tyrosinase variants among Indian oculocutaneous albinism type 1 patients.

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The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism.

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

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Molecular and functional studies of tyrosinase variants among Indian oculocutaneous albinism type 1 patients.

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