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Article

SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia.

Journal of human genetics - 1 Oct 2016

Mészárosová Anna Uhrová, Putzová Martina, Čermáková Marie, Vávrová Dagmar, Doležalová Kateřina, Smetanová Irena, Stejskal David, Beetz Christian, Seeman Pavel

Abstract excerpt

The SPAST gene has a major role in hereditary spastic paraplegias (HSPs). This is the first report mapping characteristics of the SPAST gene in a large cohort of Czech HSP patients. All 17 coding exons of the SPAST gene were Sanger sequenced in 327 patients from 263 independent families with suspected uncomplicated HSP. The selected 126 independent patients, without mutation in the SPAST gene after Sanger...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27334366
DOI: 10.1038/jhg.2016.73

Genes

SPAST

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