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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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| 主要な著者: | , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2012
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| 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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