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Article

SPAST mutations in Australian patients with hereditary spastic paraplegia.

Internal medicine journal - 1 Dec 2012

Vandebona H, Kerr N P, Liang C, Sue C M

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegia (HSP) is often caused by mutations in the SPAST gene. The frequency of SPAST mutations causing HSP in Australian patients is currently unknown. AIM: We aimed to determine the frequency of SPAST gene mutations in our cohort of HSP patients. METHODS: We recruited 30 unrelated patients with HSP for clinical and genetic assessment. DNA or RNA was extracted from patients'...

Read the complete abstract on PubMed

Topics

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Share to Adenosine Triphosphatases
Share to DNA Mutational Analysis
Share to Gene Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Multiplex Polymerase Chain Reaction

Share to Mutation, Missense

Share to Polymorphism, Single Nucleotide

Share to Spastic Paraplegia, Hereditary

Share to Spastin

Source

Identifiers

PMID: 23252998
DOI: 10.1111/j.1445-5994.2012.02941.x

Genes

SPAST

Variants

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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