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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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Science
Egile Nagusiak: Oprea, Gabriela E., Kröber, Sandra, McWhorter, Michelle L., Rossoll, Wilfried, Müller, Stefan, Krawczak, Michael, Bassell, Gary J., Beattie, Christine E., Wirth, Brunhilde
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2008
Gaiak:
Sarrera elektronikoa: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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