CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

Autosomal recessive lethal and severe osteogenesis imperfecta (OI) is caused by the deficiency of cartilage-associated protein (CRTAP) and prolyl-3-hydroxylase 1 (P3H1) because of CRTAP and LEPRE1 mutations. We analyzed five families in which 10 individuals had a clinical diagnosis of lethal and sev...

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Autori principali: Van Dijk, Fleur S, Nesbitt, Isabel M, Nikkels, Peter G J, Dalton, Ann, Bongers, Ernie M H F, van de Kamp, Jiddeke M, Hilhorst-Hofstee, Yvonne, Den Hollander, Nicolette S, Lachmeijer, Augusta M A, Marcelis, Carlo L, Tan-Sindhunata, Gita M B, van Rijn, Rick R, Meijers-Heijboer, Hanne, Cobben, Jan M, Pals, Gerard
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2009
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987020/
https://ncbi.nlm.nih.gov/pubmed/19550437
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.75
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