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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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Bibliografiske detaljer
Main Authors: Pokidysheva, Elena, Tufa, Sara, Bresee, Chris, Brigande, John V., Bächinger, Hans Peter
Format: Artigo
Sprog:Inglês
Udgivet: 2012
Fag:
Online adgang: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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