A Nonclassical IFITM5 mutation located in the coding region causes severe osteogenesis imperfecta with prenatal onset

Journal of Bone and Mineral Research

Volumn 29, Issue 6, 2014, Pages 1387-1391

  Hoyer Kuhn, Heike ^a   Semler, Oliver ^a   Garbes, Lutz ^a   Zimmermann, Katharina ^a   Becker, Jutta ^a   Wollnik, Bernd ^a   Schoenau, Eckhard ^a   Netzer, Christian ^a  

^a UNIVERSITY OF COLOGNE   (Germany)

Author keywords

BRITTLE BONES; DE NOVO; IFITM5; OSTEOGENESIS IMPERFECTA; TYPE V

Indexed keywords

ANTIBIOTIC AGENT; INTERFERON INDUCED TRANSMEMBRANE PROTEIN 5; MEMBRANE PROTEIN; NERIDRONIC ACID; UNCLASSIFIED DRUG; IFITM5 PROTEIN, HUMAN;

ACHONDROPLASIA; ARTICLE; ARTIFICIAL VENTILATION; BONE BIOPSY; BONE DYSPLASIA; CASE REPORT; CESAREAN SECTION; DISEASE COURSE; FETUS ECHOGRAPHY; GENE MUTATION; GENETIC CODE; GERMANY; HUMAN; HYDRAMNIOS; INTRAUTERINE INFECTION; LUMBAR VERTEBRA; MALE; MOTOR DEVELOPMENT; MOTOR PERFORMANCE; MUSCLE HYPOTONIA; NEWBORN; NEWBORN SEPSIS; OSSIFICATION; OSTEOGENESIS IMPERFECTA; OSTEOLYSIS; POLAND; SHORT STATURE; X RAY SPECTROMETRY; AMINO ACID SEQUENCE; BIOLOGY; CHEMISTRY; GENETICS; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PRENATAL DIAGNOSIS;

AMINO ACID SEQUENCE; BASE SEQUENCE; COMPUTATIONAL BIOLOGY; DISEASE PROGRESSION; HUMANS; INFANT, NEWBORN; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; OPEN READING FRAMES; OSTEOGENESIS IMPERFECTA; PRENATAL DIAGNOSIS;

EID: 84901276457     PISSN: 08840431     EISSN: 15234681     Source Type: Journal    
DOI: 10.1002/jbmr.2156     Document Type: Article

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