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Article

Preimplantation genetic diagnosis of spinal muscular atrophy.

Molecular human reproduction - 1 Sept 1998

Dreesen J C, Bras M, de Die-Smulders C, Dumoulin J C, Cobben J M, Evers J L, Smeets H J, Geraedts J P

Abstract excerpt

After Duchenne muscular dystrophy, spinal muscular atrophy (SMA) is the most common severe neuromuscular disease in childhood. Since 1995, homozygous deletions in exon 7 of the survival motor neuron (SMN) gene have been described in >90-95% of SMA patients. However, the presence of a highly homol...

Topics

Adult
Alleles
Base Sequence
Blastomeres
Cyclic AMP Response Element-Binding Protein
DNA Primers
Exons
Female
Genotype
Homozygote
Humans
Male
Muscular Atrophy, Spinal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nerve Tissue Proteins

Polymerase Chain Reaction

Pregnancy

Preimplantation Diagnosis

RNA-Binding Proteins

Source

Identifiers

PMID: 9783849
DOI: 10.1093/molehr/4.9.881

Genes

PGD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9783849-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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