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Article

Allele-specific amplification for the diagnosis of autosomal recessive spinal muscular atrophy.

Clinical chemistry and laboratory medicine - 1 Feb 1999

Ravard-Goulvestre C, Boucly C, Mathieu B, Van Amerongen G, Viollet L, Estournet B, Barois A, de Mazancourt P

Abstract excerpt

The SMN1 gene is homozygously deleted for at least exon 7, interrupted or converted to a non-functional telomeric copy in most cases of proximal spinal muscular atrophies. The presence of a pseudogene hampers direct detection of the exon 7 deletion. We describe a method for the detection of the of exon 7 deletion, based on the amplification refractory mutation system (ARMS), in a multiplex PCR with...

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Source

Identifiers

PMID: 10219501
DOI: 10.1515/CCLM.1999.024

Genes

SMN1

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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