Article
Genetic variants and mutational spectrum of Chinese Hermansky-Pudlak syndrome patients.
Pigment cell & melanoma research - 1 Jan 2021
Liu Teng, Yuan Yefeng, Bai Dayong, Qi Zhan, Yang Lin, Zhang Tianjiao, Yang Xiumin, Li Wei, Wei Aihua
Abstract excerpt
Hermansky-Pudlak syndrome (HPS) is a rare recessive disorder characterized by oculocutaneous albinism or ocular albinism, bleeding diathesis, and other symptoms such as colitis and pulmonary fibrosis. Eleven causative genes have been identified for HPS-1-HPS-11 subtypes in humans. We have identified 16 newly reported patients including the first HPS-2 case in the Chinese population. In a total of 40 HPS patients,...
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