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[Mutation analysis of 35 Wilson's disease pedigrees].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2016

Zong Yanan, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To analyze the features of genetic mutations underlying Wilson's disease and provide prenatal and presymptomatic diagnosis. METHODS: For 35 pedigrees affected with the disease, the exons and exon-intron boundaries of the ATP7B gene were amplified with polymerase chain reaction and subjected to Sanger sequencing. After the genotypes of parents of the probands were determined, prenatal diagnosis were...

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PMID: 26829729
DOI: 10.3760/cma.j.issn.1003-9406.2016.01.008

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