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白化病。

Albinism.

作者信息

King R A, Summers C G

机构信息

Department of Medicine, University of Minnesota, Minneapolis.

出版信息

Dermatol Clin. 1988 Apr;6(2):217-28.

PMID:3288382
Abstract

Genetic abnormalities of the melanin pigment system in which the synthesis of melanin is reduced or absent are called albinism. The reduction in melanin synthesis can involve the skin, hair follicle, and eye, resulting in oculocutaneous albinism, or can be localized primarily to the eye, resulting in ocular albinism. Approximately 1 in 17,000 individuals in the United States has oculocutaneous albinism, and more than 1 per cent of the population are heterozygous for a gene producing albinism.

摘要

黑色素色素系统的遗传异常,即黑色素合成减少或缺失,被称为白化病。黑色素合成的减少可累及皮肤、毛囊和眼睛,导致眼皮肤白化病,或主要局限于眼睛,导致眼白化病。在美国,大约每17000人中就有1人患有眼皮肤白化病,超过1%的人口是产生白化病基因的杂合子。

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