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Article

Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7.

Neurogenetics - 1 Sept 1997

Rochette C F, Surh L C, Ray P N, McAndrew P E, Prior T W, Burghes A H, Vanasse M, Simard L R

Abstract excerpt

The telomeric survival motor neuron (SMN(T)) gene is a valuable molecular diagnostic tool for childhood-onset spinal muscular atrophy (SMA) as homozygous deletions of SMN(T) exon 7 (delta7SMN(T)) are present in approximately 94% of patients. In this report, we provide the first comprehensive study of 32 unrelated non-deletion SMA patients. Quantitative polymerase chain reaction (PCR) studies established that 90%...

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Source

Identifiers

PMID: 10732817
DOI: 10.1007/s100480050021

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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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Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7.PMID 10732817Read ↗

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