A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1)

被引：13

作者：

Nakamura, E

Miyamura, Y

Matsunaga, J

Kano, Y

Dakeishi-Hara, M

Tanita, M

Kono, M

Tomita, Y

机构：

[1] Nagoya Univ, Grad Sch Med, Dept Dermatol, Shouwa Ku, Nagoya, Aichi 4668550, Japan

[2] Akita Univ, Sch Med, Dept Dermatol, Akita 0108543, Japan

[3] Tohoku Univ, Grad Sch Med, Dept Dermatol, Aoba Ku, Sendai, Miyagi 9808574, Japan

[4] Kyorin Univ, Sch Med, Dept Dermatol, Mitaka, Tokyo 1818611, Japan

来源：

JOURNAL OF DERMATOLOGICAL SCIENCE | 2002年 / 28卷 / 02期

关键词：

albinism; melanin; pigment; tyrosinase;

D O I：

10.1016/S0923-1811(01)00141-4

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Tyrosinase is a rate-limiting enzyme in the melanin biosynthetic pathway and a complete defect of the enzyme activity caused by homozygous mutations of the tyrosinase gene is well known to result in tyrosinase-negative oculocutaneous albinism (OCA1A) patients who never develop any melanin pigment in the skin, hair and eyes throughout life. In this paper. we report a novel missense substitution, R239W(CGG --> TGG) of the tyrosinase gene in a patient with tyrosinase-negative OCA. (C) 2002 Elsevier Science Ireland Ltd. All rights reserved.

引用

页码：102 / 105

页数：4

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