[The clinical features and gene mutation analysis in a pedigree of spinocerebellar ataxia type 7].

doi:10.1360/yc-007-0688

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Article

[The clinical features and gene mutation analysis in a pedigree of spinocerebellar ataxia type 7].

Yi chuan = Hereditas - 1 Jun 2007

Yin Xin-Zhen, Zhang Bao-Rong, Wu Ding-Wen, Tian Jun, Zhang Hao

Abstract excerpt

We investigated the clinical features and gene mutation in a pedigree of spinocerebellar ataxia (SCA). A series of clinical tests was performed including visual examination, retinal angiography, visual evoked potential, electroretinogram and magnetic resonance imaging. Genomic DNA of the family members and normal controls was used for amplification of the (CAG)n repeats of SCA1, SCA2, SCA3, SCA6, SCA7, SCA17 and...

Topics

Adult
Ataxin-1
Ataxin-3
Ataxin-7
Ataxins
Calcium Channels
DNA Mutational Analysis
Female
Humans
Male
Mutation
Nerve Tissue Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nuclear Proteins

Pedigree

Polymerase Chain Reaction

Repressor Proteins

Spinocerebellar Ataxias

Trinucleotide Repeats

Source

Open in PubMed

Identifiers

PMID: 17650485
DOI: 10.1360/yc-007-0688

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