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Aminoglycoside-Induced Premature Stop Codon Read-Through of Mucopolysaccharidosis Type I Patient Q70X and W402X Mutations in Cultured Cells

The premature stop codon mutations, Q70X and W402X, are the most common α-l-iduronidase gene (IDUA) mutations in mucopolysaccharidosis type I (MPS I) patients. Read-through drugs have been used to suppress premature stop codons, and this can potentially be used to treat patients who have this type o...

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書誌詳細
主要な著者: Kamei, Makoto, Kasperski, Karissa, Fuller, Maria, Parkinson-Lawrence, Emma J., Karageorgos, Litsa, Belakhov, Valery, Baasov, Timor, Hopwood, John J., Brooks, Doug A.
フォーマット: Artigo
言語:Inglês
出版事項: Springer Berlin Heidelberg 2013
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4110339/
https://ncbi.nlm.nih.gov/pubmed/24193436
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2013_270
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