Phenotypic variability of osteogenesis imperfecta type v caused by an IFITM5 mutation

Journal of Bone and Mineral Research

Volumn 28, Issue 7, 2013, Pages 1523-1530

  Shapiro, Jay R ^a   Lietman, Caressa ^b   Grover, Monica ^b   Lu, James T ^b   Nagamani, Sandesh C S ^b   Dawson, Brian C ^b   Baldridge, Dustin M ^b   Bainbridge, Matthew N ^b   Cohn, Dan H ^c   Blazo, Maria ^d   Roberts, Timothy T ^a   Brennen, Feng Shu ^a   Wu, Yimei ^a   Gibbs, Richard A ^b   Melvin, Pamela ^a   Campeau, Philippe M ^b   Lee, Brendan H ^b,e  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d SCOTT AND WHITE MEMORIAL HOSPITAL   (United States)

^e HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

HYPERPLASTIC CALLUS; IFITM5; OSTEOGENESIS IMPERFECTA; UNTRANSLATED REGION

Indexed keywords

INTERFERON INDUCED TRANSMEMBRANE PROTEIN 5; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

5' UNTRANSLATED REGION; ADULT; ARTICLE; BONE DENSITY; CALCIFICATION; CLINICAL ARTICLE; CODON; DISLOCATION; EXOME; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; MALE; MEDICAL RECORD REVIEW; MIXED HEARING LOSS; OSTEOGENESIS IMPERFECTA; OSTEOGENESIS IMPERFECTA TYPE V; PHENOTYPE;

5' UNTRANSLATED REGIONS; ADULT; BONE DENSITY; CHILD; CHILD, PRESCHOOL; CODON, INITIATOR; FAMILY; FEMALE; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MIDDLE AGED; OSTEOGENESIS IMPERFECTA; POINT MUTATION; RETROSPECTIVE STUDIES;

EID: 84879246494     PISSN: 08840431     EISSN: 15234681     Source Type: Journal    
DOI: 10.1002/jbmr.1891     Document Type: Article

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