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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...

詳細記述

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書誌詳細
出版年:Hum Mol Genet
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: Oxford University Press 2020
主題:
オンライン・アクセス: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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