Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta

New England Journal of Medicine

Volumn 355, Issue 26, 2006, Pages 2757-2764

  Barnes, Aileen M ^a   Chang, Weizhong ^a   Morello, Roy ^b   Cabral, Wayne A ^a   Weis, MaryAnn ^c   Eyre, David R ^c   Leikin, Sergey ^a   Makareeva, Elena ^a   Kuznetsova, Natalia ^a   Uveges, Thomas E ^a   Ashok, Aarthi ^a   Flor, Armando W ^a   Mulvihill, John J ^d   Wilson, Patrick L ^d   Sundaram, Usha T ^e   Lee, Brendan ^b   Marini, Joan C ^a  

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

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF WASHINGTON   (United States)

^d UNIVERSITY OF OKLAHOMA   (United States)

^e VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 1; PROTEIN CRTAP; PROTEIN DERIVATIVE; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; CLINICAL FEATURE; COLLAGEN DEFECT; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DISEASE SEVERITY; ENCHONDRAL OSSIFICATION; FEMALE; FIBROBLAST; HUMAN; HYDROXYLATION; INFANT; MALE; OSTEOGENESIS IMPERFECTA; OSTEOPOROSIS; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DEFICIENCY; PROTEIN PROCESSING;

COLLAGEN TYPE I; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; FIBROBLASTS; GENES, RECESSIVE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; OSTEOGENESIS IMPERFECTA; ULTRASONOGRAPHY, PRENATAL;

EID: 33845866114     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa063804     Document Type: Article

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