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Article

Deletion and conversion in spinal muscular atrophy patients: is there a relationship to severity?

Annals of neurology - 1 Feb 1997

DiDonato C J, Ingraham S E, Mendell J R, Prior T W, Lenard S, Moxley R T, Florence J, Burghes A H

Abstract excerpt

The spinal muscular atrophy-determining gene, survival motor neuron (SMN), is present in two copies, telSMN and cenSMN, which can be distinguished by base-pair changes in exons 7 and 8. The telSMN gene is often absent in spinal muscular atrophy patients, which could be due to deletion or sequence conversion (telSMN conversion to cenSMN giving rise to two cenSMN genes). To test for conversion events in spinal...

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PMID: 9029072
DOI: 10.1002/ana.410410214

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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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Deletion and conversion in spinal muscular atrophy patients: is there a relationship to severity?PMID 9029072Read ↗

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