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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發表在:Hum Mol Genet
Main Authors: 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
格式: Artigo
語言:Inglês
出版: Oxford University Press 2020
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在線閱讀: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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