Identification of a Homozygous Missense Mutation in the TYR Gene in a Chinese Family with OCA1

• 作 者: Yan WANG Yi-fan ZHOU Na SHEN Y
• 机 构: DepartmentofNeurosurgery,ReproductiveMedicineCenter,DepartmentofLaboratoryMedicine,DepartmentofInfec
• 出 处: 当代医学科学(英文)
• 发表日期: 2018年5期
• 关键词: oculocutaneous ALBINISM TYR MUTATION multiplex ligation-dependent PROBE AMPLIFIC
• 基金项目: This project was supported by the National Natural Science Foundation of China (No.81500925).

Oculocutaneous albinism (OCA)is an autosomal recessive pigmentation abnormality,characterized by variable hair,skin,and ocular hypopigmentation.OCA1 is the most frequent subtype of OCA,caused by mutations in the tyrosinase gene (TYR). In this study,we inv