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Article

Evaluating the effect of spastin splice mutations by quantitative allele-specific expression assay.

European journal of neurology - 1 Jan 2011

Klimpe S, Zibat A, Zechner U, Wellek B, Shoukier M, Sauter S M, Pantakani D V K, Mannan A U

Abstract excerpt

BACKGROUND: mutations in the SPG4/SPAST gene are the most common cause for hereditary spastic paraplegia (HSP). The splice-site mutations make a significant contribution to HSP and account for 17.4% of all types of mutations and 30.8% of point mutations in the SPAST gene. However, only few studies with limited molecular approach were conducted to investigate and decipher the role of SPAST splice-site mutations in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20491894
DOI: 10.1111/j.1468-1331.2010.03079.x

Genes

SPAST

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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