Ocular albinism type 1 - Wikipedia
Ocular albinism type 1 (OA1) is the most common type of ocular albinism, with a prevalence rate of 1:50,000. [ 1 ] [ 2 ] It is an inheritable classical Mendelian type X-linked recessive disorder …
Oculocutaneous Albinism and Ocular Albinism Overview
2023年4月13日 · In oculocutaneous albinism (OCA), impaired melanin biosynthesis leads to hypopigmentation in the skin, hair, and eyes with characteristic ocular abnormalities; in ocular …
眼白化病：症状、病因、流行病学、诊断和治疗-MedSci.cn
I型眼白化病（OA1）或X连锁眼白化病是最常见的眼白化病形式。 眼白化病是一种遗传性疾病，其特征是受影响男性的视力异常。 视力缺陷在出生时就存在，并且不会随着时间的推移变得更 …
Ocular Albinism - Symptoms, Causes, Treatment | NORD
2015年8月18日 · Ocular albinism type I (OA1), or X-linked ocular albinism, is the most common form of ocular albinism. Ocular albinism is a genetic disorder characterized by vision …
眼白化病I型_眼白化病I型疾病数据库_眼白化病I型疾病表征_动物模 …
与白化病，眼部，型I有关的重要基因是GPR143（G蛋白偶联受体143），其相关通路/超级通路包括普拉德-威利综合症和安吉尔曼综合症以及在黑素细胞和视网膜色素上皮细胞中的GPR143。 …
GPR143 gene: MedlinePlus Genetics
The GPR143 gene, also known as OA1, provides instructions for making a protein that is involved in the coloring (pigmentation) of the eyes and skin. This protein is made in the light-sensitive …
办公1网 · 一网协同。oa1.com
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中国人眼白化病1型的临床特点观察 - 中华眼底病杂志
[目的]观察中国人眼白化病1型 (OAI)的临床表现特点. [方法]临床和基因检查确诊的16例OA1患者及8例女性携带者纳入研究.其中8例患者和4例携带者来自同一个家系.所有患者和携带者均进行 …
Entry - #300500 - ALBINISM, OCULAR, TYPE I; OA1 - OMIM
Ocular albinism type I (OA1) is the most common form of ocular albinism. Clinical presentation of OA1 in Caucasians is characterized by nystagmus, impaired visual acuity, iris …
The Ocular Albinism Type 1 Gene Product, OA1, Spans Intracellular ...
OA1 (GPR143) is a pigment cell-specific intracellular glycoprotein consisting of 404 amino acid residues that is mutated in patients with Ocular Albinism Type 1, the most common form of …