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[Analysis of P gene variations among fourteen patients with oculocutaneous albinism type II].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2019

Tan Jianqiang, Pan Lizhen, Huang Jun, Li Wugao, Li Zhetao, Chang Rongni, Li Jingwen, Yan Tizhen, Huang Jiwei, Yuan Dejian, Cai Ren

Abstract excerpt

OBJECTIVE: To analyze variations of TYR and P genes among 14 patients with clinically diagnosed oculocutaneous albinism. METHODS: Potential variations of the TYR and P genes were detected by Sanger sequencing. Novel variations were predicted with bioinformatics software including SIFT and PolyPhen-2. RESULTS: No variation was found in the TYR gene, while 9 types of variations were found in the P gene among the 14...

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PMID: 31813138
DOI: 10.3760/cma.j.issn.1003-9406.2019.12.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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