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[Study on clinical manifestation, genotype and genetic characteristics of two Kennedy disease pedigrees].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2010

Yang Juan, Zhang Cheng, Hu Zhao-hui, Zhan Yi-xin, Cao Ji-qing, Ren Hui

Abstract excerpt

OBJECTIVE: To investigate the clinical manifestations, genotypes, and genetic characteristics of two pedigrees with Kennedy disease. METHODS: The clinical data of the patients from two Kennedy disease families were collected. The numbers of trinucleotide CAG repeats in exon 1 of the androgen receptor gene were determined by DNA sequencing and repeat fragment analysis. RESULTS: Family A was composed of 58...

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Identifiers

PMID: 20376789
DOI: 10.3760/cma.j.issn.1003-9406.2010.02.002

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