Mutations in SERPINF1 cause osteogenesis imperfecta type VI

Journal of Bone and Mineral Research

Volumn 26, Issue 12, 2011, Pages 2798-2803

  Homan, Erica P ^a   Rauch, Frank ^b   Grafe, Ingo ^a   Lietman, Caressa ^a   Doll, Jennifer A ^c   Dawson, Brian ^a   Bertin, Terry ^a   Napierala, Dobrawa ^a   Morello, Roy ^d   Gibbs, Richard ^a   White, Lisa ^a   Miki, Rika ^e,f   Cohn, Daniel H ^e,f   Crawford, Susan ^c   Travers, Rose ^b   Glorieux, Francis H ^b   Lee, Brendan ^a,g  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b MCGILL UNIVERSITY   (Canada)

^c NORTHSHORE UNIVERSITY HEALTHSYSTEM   (United States)

^d UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f CEDARS SINAI MEDICAL CENTER   (United States)

^g HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

BRITTLE BONE DISEASE; COLLAGEN TYPE I; FRACTURE; MATRIX PROTEINS; PIGMENT EPITHELIUM DERIVED FACTOR

Indexed keywords

PAMIDRONIC ACID; PIGMENT EPITHELIUM DERIVED FACTOR; PROTEINASE INHIBITOR; SERPIN PEPTIDASE INHIBITOR CLADE F MEMBER 1; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; COMPRESSION FRACTURE; DUAL ENERGY X RAY ABSORPTIOMETRY; FEMALE; GENE IDENTIFICATION; GENE ISOLATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; HOMOZYGOSITY; HUMAN; MALE; NONSENSE MUTATION; OSTEOGENESIS IMPERFECTA; OSTEOGENESIS IMPERFECTA TYPE VI; PATHOGENESIS;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NERVE GROWTH FACTORS; OSTEOGENESIS IMPERFECTA; PEDIGREE; REPRODUCIBILITY OF RESULTS; SERPINS;

EID: 81855224919     PISSN: 08840431     EISSN: 15234681     Source Type: Journal    
DOI: 10.1002/jbmr.487     Document Type: Article

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