[The study of clinical characteristics and molecular genetics in a large spinocerebellar ataxia3 pedigree].

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Article

[The study of clinical characteristics and molecular genetics in a large spinocerebellar ataxia3 pedigree].

Zhonghua yi xue za zhi - 7 Jul 2015

Huang Yue, Xia Mingrong, Ren Xiuhua, He Shuang, Zhang Jiewen

Abstract excerpt

OBJECTIVE: To investigate the clinical manifestations and gene mutations on a large spinocerebellar ataxia 3 pedigree, in order to explore the molecular genetical characteristics in this pedigree. METHODS: Blood samples from 9 patients and 27 healthy family members in the Department of Neurology of Henan Provincial People's Hospital were collected. The CAG trinucleotide repeats in SCA3 gene in each sample were...

Topics

Alleles
Genetic Testing
Genotype
Humans
Mutation
Pedigree
Polymerase Chain Reaction
Spinocerebellar Ataxias
Trinucleotide Repeats

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Open in PubMed

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PMID: 26710806

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