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A Connective Tissue Disorder Caused by Mutations of the Lysyl Hydroxylase 3 Gene

Lysyl hydroxylase 3 (LH3, encoded by PLOD3) is a multifunctional enzyme capable of catalyzing hydroxylation of lysyl residues and O-glycosylation of hydroxylysyl residues producing either monosaccharide (Gal) or disaccharide (Glc-Gal) derivatives, reactions that form part of the many posttranslation...

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Autors principals: Salo, Antti M., Cox, Helen, Farndon, Peter, Moss, Celia, Grindulis, Helen, Risteli, Maija, Robins, Simon P., Myllylä, Raili
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2008
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2561927/
https://ncbi.nlm.nih.gov/pubmed/18834968
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.09.004
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