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

Clinical Genetics

Volumn 82, Issue 5, 2012, Pages 453-459

  Valli, M ^a   Barnes, A M ^b   Gallanti, A ^a   Cabral, W A ^b   Viglio, S ^a   Weis, M A ^c   Makareeva, E ^b   Eyre, D ^c   Leikin, S ^b   Antoniazzi, F ^d   Marini, J C ^b   Mottes, M ^d  

^a UNIVERSITY OF PAVIA   (Italy)

^b EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^c UNIVERSITY OF WASHINGTON   (United States)

^d UNIVERSITY OF VERONA   (Italy)

Author keywords

Cartilage associated protein; Collagen; Matrix insufficiency; Osteogenesis imperfecta

Indexed keywords

ACTIN; COLLAGEN; COLLAGEN FIBRIL; COLLAGEN TYPE 1; CYCLOPHILIN B; PROLYL 3 HYDROXYLASE 1; PROTEIN CRTAP; SCLEROPROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; CRTAP GENE; EGYPT; EXTRACELLULAR MATRIX; GENE; GENE DELETION; GENE INSERTION; HOMOZYGOTE; HUMAN; HUMAN CELL; HYDROXYLATION; IMMUNOFLUORESCENCE; LETHALITY; MALE; NULL ALLELE; OSTEOGENESIS IMPERFECTA; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN SECRETION; QUANTITATIVE ANALYSIS; SKIN FIBROBLAST;

ALLELES; CHILD; COLLAGEN TYPE I; CYCLOPHILINS; EGYPT; EXTRACELLULAR MATRIX PROTEINS; FIBROBLASTS; GENE DELETION; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MUTATION; OSTEOGENESIS IMPERFECTA; PROTEIN PROCESSING, POST-TRANSLATIONAL; PROTEOGLYCANS;

EID: 84867444157     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01794.x     Document Type: Article

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