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Molecular diagnosis of spinal muscular atrophy

The frequency of deletions within the survival motor neurone (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes in patients with spinal muscular atrophy (SMA), and the impact of this on the diagnosis and prenatal diagnosis of SMA, were investigated by molecular analysis of stored DNA and r...

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Autori principali: Stewart, H, Wallace, A, McGaughran, J, Mountford, R, Kingston, H
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Group 1998
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1717602/
https://ncbi.nlm.nih.gov/pubmed/9713008
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