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A recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.
Takagi, Masaki; Sato, Shuhei; Hara, Keiichi; Tani, Chihiro; Miyazaki, Osamu; Nishimura, Gen; Hasegawa, Tomonobu.
Affiliation
  • Takagi M; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Am J Med Genet A ; 161A(8): 1980-2, 2013 Aug.
Article in En | MEDLINE | ID: mdl-23813632
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Full text: 1 Database: MEDLINE Main subject: Osteogenesis Imperfecta / 5' Untranslated Regions / Membrane Proteins / Mutation Type of study: Diagnostic_studies / Etiology_studies Limits: Adult / Child, preschool / Female / Humans / Male Language: En Year: 2013 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Osteogenesis Imperfecta / 5' Untranslated Regions / Membrane Proteins / Mutation Type of study: Diagnostic_studies / Etiology_studies Limits: Adult / Child, preschool / Female / Humans / Male Language: En Year: 2013 Type: Article