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Paper Title
The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V.
PubMed
Paper Journal Title
BMC Musculoskelet Disord
Paper Citation Count
20
Paper Publication Year
2014
Bio Mention
-null allele, 5' untranslated region, IFITM5, IFITM5 5' UTR, IFITM5 mutation, OI, OI type V, RNA, T, T IFITM5 mutation, UTR, alternative start codon, bone, bone fragility, c, c.-14C > T, eukaryotic cell, eukaryotic cell line, human, mutant IFITM5, mutant IFITM5 mRNA transcripts, osteogenesis imperfecta (OI) type V, osteogenesis imperfecta type V, patient, skeletal tissue, wild, wild-type and mutant IFITM5 mRNA transcripts
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Emma L Duncan
The University of Queensland Diamantina Institute, Translational Research Institute
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