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Article

Duplex PCR for preimplantation genetic diagnosis (PGD) of spinal muscular atrophy.

Prenatal diagnosis - 1 Aug 2003

Moutou Céline, Gardes Nathalie, Viville Stéphane

Abstract excerpt

The main difficulty in developing a molecular diagnosis of spinal muscular atrophy (SMA) resides in the specific genomic structure of the locus. Indeed, two highly homologous survival motor neurone genes, SMN1 and SMN2, are present at the locus. The detection of the homozygous deletion of exons 7 and 8 of the SMN1 gene, which is present in 90 to 98% of the patients, is based on methods highlighting 1 of the 8...

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Source

Identifiers

PMID: 12913876
DOI: 10.1002/pd.676

Genes

PGD
SMN1
SMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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