Mild SMN missense alleles are only functional in the presence of SMN2 in mammals

Spinal muscular atrophy (SMA) is caused by reduced levels of full-length SMN (FL-SMN). In SMA patients with one or two copies of the Survival Motor Neuron 2 (SMN2) gene there are a number of SMN missense mutations that result in milder-than-predicted SMA phenotypes. These mild SMN missense mutation...

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Veröffentlicht in:Hum Mol Genet
Hauptverfasser: Iyer, Chitra C, Corlett, Kaitlyn M, Massoni-Laporte, Aurélie, Duque, Sandra I, Madabusi, Narasimhan, Tisdale, Sarah, McGovern, Vicki L, Le, Thanh T, Zaworski, Phillip G, Arnold, W David, Pellizzoni, Livio, Burghes, Arthur H M
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2018
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General Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6140769/
https://ncbi.nlm.nih.gov/pubmed/29982416
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy251
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