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[Linkage analysis of a Chinese family with autosomal dominant congenital retinaochoroidal coloboma].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2009

Dong Jia-mei, Bu Juan, Li Jing, Zhuo Yan-ling, Wang Le-jin

Abstract excerpt

OBJECTIVE: To map the candidate gene by linkage analysis in a Chinese family with autosomal dominant congenital retinaochoroidal coloboma. METHODS: A detailed clinical examination was performed for all patients in the family. The genomic DNA of all family members was extracted from peripheral blood leukocytes. Linkage analysis and genome-wide linkage screening was conducted using fluorescent detection of 398...

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PMID: 19504436
DOI: 10.3760/cma.j.issn.1003-9406.2009.03.006

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