Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix.

Valli, M; Barnes, A M; Gallanti, A; Cabral, W A; Viglio, S; Weis, M A; Makareeva, E; Eyre, D; Leikin, S; Antoniazzi, F; Marini, J C; Mottes, M

Valli, M; Barnes, A M; Gallanti, A; Cabral, W A; Viglio, S; Weis, M A; Makareeva, E; Eyre, D; Leikin, S; Antoniazzi, F; Marini, J C; Mottes, M.

Affiliation

Valli M; Department of Biochemistry A. Castellani, University of Pavia, Pavia, Italy.

Clin Genet ; 82(5): 453-9, 2012 Nov.

Article in En | MEDLINE | ID: mdl-21955071

Subject(s)

Collagen Type I/metabolism; Extracellular Matrix Proteins/genetics; Genes, Recessive; Osteogenesis Imperfecta/genetics; Alleles; Child; Collagen Type I, alpha 1 Chain; Cyclophilins/genetics; Cyclophilins/metabolism; Egypt; Extracellular Matrix Proteins/metabolism; Fibroblasts/metabolism; Gene Deletion; Homozygote; Humans; Male; Membrane Glycoproteins/genetics; Membrane Glycoproteins/metabolism; Molecular Chaperones; Mutation; Osteogenesis Imperfecta/metabolism; Osteogenesis Imperfecta/pathology; Prolyl Hydroxylases; Protein Processing, Post-Translational; Proteoglycans/genetics; Proteoglycans/metabolism

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteogenesis Imperfecta / Extracellular Matrix Proteins / Collagen Type I / Genes, Recessive Limits: Child / Humans / Male Country/Region as subject: Africa Language: En Journal: Clin Genet Year: 2012 Type: Article Affiliation country: Italy

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