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IFITM5 mutations and osteogenesis imperfecta.
Hanagata N. Hanagata N. J Bone Miner Metab. 2016 Mar;34(2):123-31. doi: 10.1007/s00774-015-0667-1. Epub 2015 Jun 2. J Bone Miner Metab. 2016. PMID: 26031935 Review.
.-14C>T) in the 5' untranslated region of IFITM5 was identified in patients with osteogenesis imperfecta type V (OI-V). Furthermore, a single point mutation (c.119C>T) in the coding region of IFITM5 was identified in OI patients with more severe …
.-14C>T) in the 5' untranslated region of IFITM5 was identified in patients with osteogenesis imperfecta type V
A brilliant breakthrough in OI type V.
Lazarus S, Moffatt P, Duncan EL, Thomas GP. Lazarus S, et al. Osteoporos Int. 2014 Feb;25(2):399-405. doi: 10.1007/s00198-013-2465-8. Epub 2013 Sep 13. Osteoporos Int. 2014. PMID: 24030286 Review.
A role in human bone has now been demonstrated with a number of recent studies identifying a single point mutation in Bril as the causative mutation in osteogenesis imperfecta type V (OI type V). Such a discovery suggests a key role for Bril in skeleta …
A role in human bone has now been demonstrated with a number of recent studies identifying a single point mutation in Bril as the causative …
A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature.
Lim JY, Bhatia NS, Vasanwala RF, Chay PL, Lim KBL, Khoo PC, Schwarze U, Jamuar SS. Lim JY, et al. Clin Dysmorphol. 2019 Jul;28(3):120-125. doi: 10.1097/MCD.0000000000000279. Clin Dysmorphol. 2019. PMID: 30985308 Review.
The recurring heterozygous variant in IFITM5 (c.-14C>T) leads to osteogenesis imperfecta type V, a second missense variant in IFITM5 (c.119C>T, p.Ser40Leu) leads to phenotype resembling osteogenesis imperfecta type VI. ...
The recurring heterozygous variant in IFITM5 (c.-14C>T) leads to osteogenesis imperfecta type V, a second mis …