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Article

Gene conversion events in adult-onset spinal muscular atrophy.

Acta neurologica Scandinavica - 1 Feb 2004

Mazzei R, Gambardella A, Conforti F L, Magariello A, Patitucci A, Gabriele A L, Sprovieri T, Labate A, Valentino P, Bono F, Bonavita S, Zappia M, Muglia M, Quattrone A

Abstract excerpt

OBJECTIVE: To investigate the possible occurrence of a conversion event in three patients with adult-onset spinal muscular atrophy (SMA) type IV, which represents the mildest form within the spectrum of the SMA phenotype. MATERIAL AND METHODS: We observed three patients with adult onset SMA and apparent isolated deletion of telomeric survival motor neuron (SMN1) exon 7. To distinguish between a deletion and a...

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Source

Identifiers

PMID: 14705979
DOI: 10.1034/j.1600-0404.2003.00181.x

Genes

SMN1

Provenance

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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