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[Study on TYR gene variant from a pedigree with oculocutaneous albinism].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Sept 2021

Zhang Yingzhen, Jin Caihong, Guo Min, Li Duofu, Chai Lianming, Wu Yang, Li Donglu

Abstract excerpt

OBJECTIVE: To analyze gene variants in a Chinese pedigree with oculocutaneous albinism (OCA). METHODS: Gene sequencing of the proband and his parents was performed using chip capture high-throughput sequencing and Sanger sequencing techniques, and PolyPhen-2, SIFT, MutationTaster, and FATHMM software were used to predict the function of new variants. At the same time,the pedigree and variant genes of 4 albinism...

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PMID: 34487524
DOI: 10.3760/cma.j.cn511374-20200609-00422

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