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Article

Allele-specific amplification for preimplantation genetic diagnosis (PGD) of spinal muscular atrophy.

Prenatal diagnosis - 1 Jun 2001

Moutou C, Gardes N, Rongières C, Ohl J, Bettahar-Lebugle K, Wittemer C, Gerlinger P, Viville S

Abstract excerpt

We have developed a new allele-specific amplification method for the preimplantation genetic diagnosis (PGD) of spinal muscular atrophy (SMA; Werdnig-Hoffmann disease) from a single cell. This method is based on the detection of the deletion of exon 7 of the telomeric copy of the survival motor neurone (SMN(t)) gene. An oligonucleotide was designed to be specific to the SMN(t) nucleotidic sequence with exonic...

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Identifiers

PMID: 11438957
DOI: 10.1002/pd.110

Genes

PGD

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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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