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Article

A single strand conformation polymorphism-based carrier test for spinal muscular atrophy.

Genetic testing - 1 Jan 2001

Semprini S, Tacconelli A, Capon F, Brancati F, Dallapiccola B, Novelli G

Abstract excerpt

Spinal muscular atrophy (SMA) is an autosomal recessive disorder with a newborn prevalence of 1 in 10,000, and a carrier frequency of 1 in 40-60 individuals. The SMA locus has been mapped to chromosome 5q11.2-13. The disease is caused by a deletion of the SMN gene, often encompassing other genes and microsatellite markers. The SMN gene is present in two highly homologous copies, SMN1 and SMN2, differing at five...

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Topics

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Share to Cyclic AMP Response Element-Binding Protein
Share to Muscular Atrophy, Spinal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Polymorphism, Single-Stranded Conformational

Share to RNA-Binding Proteins

Share to Sequence Deletion

Share to SMN Complex Proteins

Share to Survival of Motor Neuron 1 Protein

Share to Survival of Motor Neuron 2 Protein

Source

Identifiers

PMID: 11336398
DOI: 10.1089/109065701750168662

Genes

SMN1
SMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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