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Overexpression of Mutant FKRP Restores Functional Glycosylation and Improves Dystrophic Phenotype in FKRP Mutant Mice

Autosomal recessive homozygous or compound heterozygous mutations in FKRP result in forms of muscular dystrophy-dystroglycanopathy varying in age of onset, clinical presentation, and disease progression, ranging from the severe Walker-Warburg, type A,5 (MDDGA5), muscle-eye-brain (MDDGB5) with or wit...

詳細記述

保存先:
書誌詳細
出版年:Mol Ther Nucleic Acids
主要な著者: Tucker, Jason D., Lu, Pei J., Xiao, Xiao, Lu, Qi L.
フォーマット: Artigo
言語:Inglês
出版事項: American Society of Gene & Cell Therapy 2018
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5992437/
https://ncbi.nlm.nih.gov/pubmed/29858056
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.omtn.2018.02.008
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