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Article

[Prenatal diagnosis of oculocutaneous albinism type II and discovery of two novel mutations].

Zhonghua yi xue za zhi - 24 Apr 2007

Li Hong-yi, Wei Hai-yun, Zheng Hui, Meng Shu, Jiang Wei-ying, Chen Lu-ming, Duan Hong-lei

Abstract excerpt

OBJECTIVE: To investigate the genotype of oculocutaneous albinism type II (OCA2) and perform prenatal gene diagnosis for OCA2. METHODS: Peripheral blood samples were collected from a 9-year-old girl with OCA and her parents, the mother being pregnant. PCR, automatic sequence analysis and denaturing high performance liquid chromatography (DHPLC) were used to analyze the TYR gene and P gene so as to screen the OCA...

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Share to Albinism, Oculocutaneous
Share to Amino Acid Sequence

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to DNA Mutational Analysis

Share to Membrane Transport Proteins

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Source

Identifiers

PMID: 17672996

Genes

OCA2
TYR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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