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Article

[Prenatal diagnosis of oculocutaneous albinism type IV and discovery of a novel mutation].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2011

Pang Ting, Lei Jie, Zheng Hui, Xu Bei, Jiang Wei-ying, Li Hong-yi

Abstract excerpt

OBJECTIVE: To provide guidance for clinical genetic counseling and prenatal diagnosis of oculocutaneous albinism (OCA) in China. METHODS: PCR and automatic DNA sequencing were applied to obtain the genotypes of the patients and their parents in three Chinese albinism families. Prenatal gene diagnoses were performed at early pregnancy by chorionic villus sampling (CVS) or by amniocentesis at mid-pregnancy....

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Share to Albinism, Oculocutaneous
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21287499
DOI: 10.3760/cma.j.issn.1003-9406.2011.01.001

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