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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Science
Hauptverfasser: Oprea, Gabriela E., Kröber, Sandra, McWhorter, Michelle L., Rossoll, Wilfried, Müller, Stefan, Krawczak, Michael, Bassell, Gary J., Beattie, Christine E., Wirth, Brunhilde
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2008
Schlagworte:
Online Zugang: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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