Intragenic complementation of amino and carboxy terminal SMN missense mutations can rescue Smn null mice

Spinal muscular atrophy is caused by reduced levels of SMN resulting from the loss of SMN1 and reliance on SMN2 for the production of SMN. Loss of SMN entirely is embryonic lethal in mammals. There are several SMN missense mutations found in humans. These alleles do not show partial function in the...

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Publicat a:Hum Mol Genet
Autors principals: McGovern, Vicki L, Kray, Kaitlyn M, Arnold, W David, Duque, Sandra I, Iyer, Chitra C, Massoni-Laporte, Aurélie, Workman, Eileen, Patel, Aalapi, Battle, Daniel J, Burghes, Arthur H M
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2020
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General Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7788290/
https://ncbi.nlm.nih.gov/pubmed/33084884
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddaa235
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