Oculocutaneous albinism type I - Wikipedia
Oculocutaneous albinism type I or type 1A [1] is form of the autosomal recessive condition oculocutaneous albinism that is caused by a dysfunction in the gene for tyrosinase (symbol …
2019罕见病诊疗指南-白化病（albinism） - 知乎 - 知乎专栏
白化病 （albinism）又称眼皮肤白化病（oculocutaneous albinism，OCA）、泛 发性白化病、白斑病、先天性色素缺乏，是一种常染色体隐性遗传性皮肤病。 表 现为皮肤、毛发、眼睛的部分 …
Entry - #203100 - ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A …
OCA1, caused by mutations in the TYR gene, is divided clinically into 2 types: type IA, OCA1A, characterized by complete lack of tyrosinase activity due to production of an inactive enzyme, …
罕见病之白化病（二） - 丁香园论坛 - DXY.cn
Jun 9, 2024 · 白化病又称眼皮肤白化病（oculocutaneous albinism，OCA）、泛发性白化病、白斑病、先天性色素缺乏，是一种常染色体隐性遗传性皮肤病。 表现为皮肤、毛发、眼睛的部分 …
Oculocutaneous albinism type 1A - Orphanet
A severe form of oculocutaneous albinism type 1 (OCA1) characterized by complete absence of melanin and manifesting as white hair and skin, blue, fully translucent irises, nystagmus and …
Oculocutaneous albinism type 1 (OCA1A) - National Center for ...
Genetic Heterogeneity of Oculocutaneous Albinism OCA1, caused by mutations in the TYR gene, is divided clinically into 2 types: type IA, OCA1A, characterized by complete lack of tyrosinase …
眼皮肤白化病1型 - 中文版GeneReviews
Sep 1, 2017 · 眼皮肤白化病1型（Oculocutaneous albinism type 1，OCA1) 的特征为皮肤和头发的色素沉着减退以及在所有类型白化病中发现的眼睛特征性改变，包括： 眼球震颤；虹膜色素 …
Mutational analysis of oculocutaneous albinism: a compact review
Oculocutaneous albinism (OCA) is an autosomal recessive disorder caused by either complete lack of or a reduction of melanin biosynthesis in the melanocytes. The OCA1A is the most …
Table:眼皮肤白化病 (OCA) 的类型和表型-MSD诊疗手册专业版
突变 酪氨酸 基因导致酪氨酸酶活性缺失（OCA1A）或降低（OCA1B）。 酪氨酸酶催化黑色素合成的几个步骤。 在 OCA1A 中，皮肤和头发呈乳白色，眼睛呈蓝灰色（视力下降是这种形式 …
白化病的临床实践指南 - 中华医学遗传学杂志
临床上，可根据患者皮肤、毛发的颜色和眼部症状，将白化病大致分为OCA1A、OCA1B、OCA2和OA等类型 [1]。 OCA1患者表现为出生时皮肤和毛发色素缺乏。 根据其酪氨酸酶 …