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Prolyl 3-hydroxylase-1 null mice exhibit hearing impairment and abnormal morphology of the middle ear bone joints

Prolyl 3-hydroxylase1 (P3H1) is a collagen modifying enzyme which hydroxylates certain prolines in the Xaa position of conventional GlyXaaYaa triple helical sequence. Recent investigations have revealed that mutations in the LEPRE1 (gene encoding for P3H1) cause severe osteogenesis imperfecta (OI) i...

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書誌詳細
主要な著者: Pokidysheva, Elena, Tufa, Sara, Bresee, Chris, Brigande, John V., Bächinger, Hans Peter
フォーマット: Artigo
言語:Inglês
出版事項: 2012
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3570717/
https://ncbi.nlm.nih.gov/pubmed/23186870
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.matbio.2012.11.006
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