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Article

[A de novo mutation of P gene causes oculocutaneous albinism type 2 with prenatal diagnosis].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2013

Zhang Liyun, Xu Bei, Zhong Yanfang, Chen Xiaofei, Zheng Hui, Jiang Weiying, Li Hongyi

Abstract excerpt

OBJECTIVE: To determine the genotype of a family affected with oculocutaneous albinism (OCA) and to provide genetic counseling and prenatal diagnosis. METHODS: To determine the genotypes and mutational sites through PCR and sequencing for all exons and exon-intron junctions of 4 OCA genes in the proband and the P gene of her parents. Prenatal genotyping of the fetus was carried out using amniocentesis sample....

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Source

Identifiers

PMID: 23744323
DOI: 10.3760/cma.j.issn.1003-9406.2013.03.015

Genes

OCA2

Variants

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Source receipt: pubmed, retrieved 7 Sept 2026.

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