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Post-translationally Abnormal Collagens of Prolyl 3-Hydroxylase-2 Null Mice Offer a Pathobiological Mechanism for the High Myopia Linked to Human LEPREL1 Mutations

Myopia, the leading cause of visual impairment worldwide, results from an increase in the axial length of the eyeball. Mutations in LEPREL1, the gene encoding prolyl 3-hydroxylase-2 (P3H2), have recently been identified in individuals with recessively inherited nonsyndromic severe myopia. P3H2 is a...

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Bibliografiska uppgifter
I publikationen:J Biol Chem
Huvudupphovsmän: Hudson, David M., Joeng, Kyu Sang, Werther, Rachel, Rajagopal, Abbhirami, Weis, MaryAnn, Lee, Brendan H., Eyre, David R.
Materialtyp: Artigo
Språk:Inglês
Publicerad: American Society for Biochemistry and Molecular Biology 2015
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4375510/
https://ncbi.nlm.nih.gov/pubmed/25645914
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M114.634915
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