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Article

Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy

1 Mar 1996

Abstract excerpt

Previous reports have established that the telomeric copy of the survival motor neuron (SMNT) gene and the intact copy of the neuronal apoptosis inhibitory protein (NAIP) gene are preferentially deleted in patients with spinal muscular atrophy (SMA). Although deletions or mutations in the SMNT gene are most highly correlated with SMA, it is not clear to what extent NAIP or other genes influence the SMA phenotype,...

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Identifiers

PMID: 8852661
DOI: 10.1093/hmg/5.3.359

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Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophyPMID 8852661Read ↗

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