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Article

[Diagnosis of a case with oculocutaneous albinism type Ⅲ with next generation exome capture sequencing].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2017

Lyu Yuqiang, Huang Jing, Zhang Kaihui, Liu Guohua, Gao Min, Gai Zhongtao, Liu Yi

Abstract excerpt

OBJECTIVE: To explore the clinical and genetic features of a Chinese boy with oculocutaneous albinism. METHODS: The clinical features of the patient were analyzed. The DNA of the patient and his parents was extracted and sequenced by next generation exome capture sequencing. The nature and impact of detected mutation were predicted and validated. RESULTS: The child has displayed strabismus, poor vision, nystagmus...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28186599
DOI: 10.3760/cma.j.issn.1003-9406.2017.01.017

Genes

TYRP1

Variants

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