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Article

Mutation Analysis of 63 Northwest Chinese Probands with Oculocutaneous Albinism.

Current eye research - 1 Jan 2021

Chuan Zhang, Yan Yousheng, Hao Shengju, Zhang Qinghua, Zhou Bingbo, Feng Xuan, Wang Xing, Liu Furong, Zheng Lei, Cao Zongfu, Ma Xu

Abstract excerpt

PURPOSE: To identify the mutational spectrum of 63 northwest Chinese probands with Oculocutaneous albinism (OCA), and identify correlations between phenotype and genotype. METHODS: We recruited 63 clinically diagnosed with OCA patients in Gansu Provincial Maternal and Child Health Care Hospital. Mutation screening analysis was performed by direct sequencing and NGS-target sequencing to screen the variants on...

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Identifiers

PMID: 32552135
DOI: 10.1080/02713683.2020.1781192

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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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