Homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase g e n e

• 作者: Haiba Kaul Muhammad Ikram Ullah Muhammad Shakil Sabika Firasat Saqib Mahmood Shabbir Hussain
• 来源期刊: 国际眼科杂志：英文版
• 学科: 医学
• 关键词: MELANIN CONGENITAL Pakistan write biosynthesis affects RECESSIVE LINKAGE alleles chromosome
• 年，卷（期）: 2016,（5）
• 页码范围: 794-796
• 页数: 3页
• 分类号: R77

摘要

<正>Dear Sir,Iam Haiba Kaul,from the Department of Biochemistry,University of Health Sciences,Lahore,Pakistan.I write to present a study of oculocutaneous albinism(OCA)in consanguineous Pakistani families.OCA is a genetic defect of melanin biosynthesis that mainly affects eyes,skin and hair.It is a congenital condition and the