Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: Regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans

Human Mutation

Volumn 28, Issue 3, 2007, Pages 209-221

  Marini, Joan C ^a   Forlino, Antonella ^a,b   Cabral, Wayne A ^a   Barnes, Aileen M ^a   San Antonio, James D ^c   Milgrom, Sarah ^a,o   Hyland, James C ^d,p   Körkkö, Jarmo ^d   Prockop, Darwin J ^d   De Paepe, Anne ^e   Coucke, Paul ^e   Symoens, Sofie ^e   Glorieux, Francis H ^f   Roughley, Peter J ^f   Lund, Alan M ^g   Kuurila Svahn, Kaija ^h,i   Hartikka, Heini ^j   Cohn, Daniel H ^k   Krakow, Deborah ^k   Mottes, Monica ^l   Schwarze, Ulrike ^m   Chen, Diana ^m   Yang, Kathleen ^m   Kuslich, Christine ^m   Troendle, James ^a   Dalgleish, Raymond ⁿ   Byers, Peter H ^m   more..

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

^b UNIVERSITY OF PAVIA   (Italy)

^c THOMAS JEFFERSON UNIVERSITY   (United States)

^d TULANE UNIVERSITY   (United States)

^e GHENT UNIVERSITY HOSPITAL   (Belgium)

^f SHRINERS HOSPITAL FOR CHILDREN   (Canada)

^g Rigshospitalet   (Denmark)

^h VAASA CENTRAL HOSPITAL   (Finland)

ⁱ TURKU UNIVERSITY HOSPITAL   (Finland)

^j UNIVERSITY OF OULU   (Finland)

^k CEDARS SINAI MEDICAL CENTER   (United States)

^l UNIVERSITY OF VERONA   (Italy)

^m UNIVERSITY OF WASHINGTON   (United States)

ⁿ UNIVERSITY OF LEICESTER   (United Kingdom)

^o YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^p Connective Tissue GeneTests ^*  (United States)

more..

Author keywords

COL1A1; COL1A2; Genotype phenotype; Osteogenesis imperfecta; Proteoglycan binding; Type I collagen

Indexed keywords

CARTILAGE OLIGOMERIC MATRIX PROTEIN; COLLAGEN TYPE 1; FIBRONECTIN; INTEGRIN; MATRIX METALLOPROTEINASE; PROTEOGLYCAN;

AMINO ACID SUBSTITUTION; BINDING SITE; BONE FRAGILITY; EXON; FRAMESHIFT MUTATION; GENE MUTATION; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INTRON; NUCLEOTIDE SEQUENCE; OSTEOGENESIS IMPERFECTA; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; REVIEW;

BINDING SITES; COLLAGEN; COLLAGEN TYPE I; DATABASES, GENETIC; DNA MUTATIONAL ANALYSIS; HUMANS; INTEGRINS; MUTATION; OSTEOGENESIS IMPERFECTA; PROTEIN BINDING; PROTEIN STRUCTURE, TERTIARY; PROTEOGLYCANS;

EID: 33847227672     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20429     Document Type: Review

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