Article
Identification and characterization of the compound heterozygous variants of TYR gene in a northern Chinese family with Oculocutaneous albinism type 1.
Pigment cell & melanoma research - 1 Nov 2023
Si Shuhan, Jia Xueyuan, Xu Lidan, Qin Qian, Wu Jie, Ji Wei, Dong Kexian, Zhang Xuelong, Cao Lin, Wang Hao, Liu Peng, Wang Rongrong, Bai Jing, Fu Songbin, Huang Yun, Sun Wenjing
Abstract excerpt
Oculocutaneous albinism (OCA) is a genetically heterogeneous disease and is most inherited in an autosomal recessive manner. The characteristic manifestation of OCA is due to disfunction of melanin synthesis. OCA1 is the most severe subtype of OCA and is caused by homozygous or compound heterozygous variants in tyrosinase (TYR) gene, which is the key gene for melanin synthesis. This study aimed to identify the...
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