Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy

Homozygous deletion of the survival motor neuron 1 gene (SMN1) causes spinal muscular atrophy (SMA), the most frequent genetic cause of early childhood lethality. In rare instances, however, individuals are asymptomatic despite carrying the same SMN1 mutations as their affected siblings, thereby sug...

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Bibliografiske detaljer
Udgivet i:	Science
Main Authors:	Oprea, Gabriela E., Kröber, Sandra, McWhorter, Michelle L., Rossoll, Wilfried, Müller, Stefan, Krawczak, Michael, Bassell, Gary J., Beattie, Christine E., Wirth, Brunhilde
Format:	Artigo
Sprog:	Inglês
Udgivet:	2008
Fag:	Article
Online adgang:	https://ncbi.nlm.nih.gov/pmc/articles/PMC4908855/ https://ncbi.nlm.nih.gov/pubmed/18440926 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/science.1155085
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Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy

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