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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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Pubblicato in:Science
Autori principali: Oprea, Gabriela E., Kröber, Sandra, McWhorter, Michelle L., Rossoll, Wilfried, Müller, Stefan, Krawczak, Michael, Bassell, Gary J., Beattie, Christine E., Wirth, Brunhilde
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2008
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Accesso online: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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