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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...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:Science
Päätekijät: Oprea, Gabriela E., Kröber, Sandra, McWhorter, Michelle L., Rossoll, Wilfried, Müller, Stefan, Krawczak, Michael, Bassell, Gary J., Beattie, Christine E., Wirth, Brunhilde
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2008
Aiheet:
Linkit: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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