Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation.

Willaert, A; Malfait, F; Symoens, S; Gevaert, K; Kayserili, H; Megarbane, A; Mortier, G; Leroy, J G; Coucke, P J; De Paepe, A

Willaert, A; Malfait, F; Symoens, S; Gevaert, K; Kayserili, H; Megarbane, A; Mortier, G; Leroy, J G; Coucke, P J; De Paepe, A.

Affiliation

Willaert A; Department of Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium.

J Med Genet ; 46(4): 233-41, 2009 Apr.

Article in En | MEDLINE | ID: mdl-19088120

Subject(s)

Membrane Glycoproteins/genetics; Mutation; Osteogenesis Imperfecta/genetics; Proteoglycans/genetics; Alternative Splicing; Blotting, Western; Cells, Cultured; Cohort Studies; Collagen Type I/metabolism; Cyclophilins/genetics; Cyclophilins/metabolism; DNA Mutational Analysis; Electrophoresis, Polyacrylamide Gel; Extracellular Matrix Proteins/genetics; Extracellular Matrix Proteins/metabolism; Fibroblasts/cytology; Fibroblasts/metabolism; Gene Expression; Genes, Recessive; Genetic Testing; Humans; Hydroxylation; Immunohistochemistry; Isoenzymes/genetics; Isoenzymes/metabolism; Membrane Glycoproteins/metabolism; Molecular Chaperones; Osteogenesis Imperfecta/diagnosis; Prolyl Hydroxylases; Proteoglycans/metabolism; Reverse Transcriptase Polymerase Chain Reaction; Tandem Mass Spectrometry

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteogenesis Imperfecta / Proteoglycans / Membrane Glycoproteins / Mutation Type of study: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: J Med Genet Year: 2009 Document type: Article

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