A recurrent mutation in the 5′-UTR of IFITM5 causes osteogenesis imperfecta type V

Masaki Takagi, Shuhei Sato, Keiichi Hara, Chihiro Tani, Osamu Miyazaki, Gen Nishimura, Tomonobu Hasegawa

Research output: Contribution to journalArticle

14 Citations (Scopus)
Original languageEnglish
Pages (from-to)1980-1982
Number of pages3
JournalAmerican Journal of Medical Genetics, Part A
Volume161
Issue number8
DOIs
Publication statusPublished - 2013 Aug

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Osteogenesis Imperfecta
5' Untranslated Regions
Preschool Children
Membrane Proteins
Phenotype
Recurrence
Polymerase Chain Reaction
Mutation
DNA
Type V Osteogenesis Imperfecta

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

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.

In: American Journal of Medical Genetics, Part A, Vol. 161, No. 8, 08.2013, p. 1980-1982.

Research output: Contribution to journalArticle

Takagi, Masaki ; Sato, Shuhei ; Hara, Keiichi ; Tani, Chihiro ; Miyazaki, Osamu ; Nishimura, Gen ; Hasegawa, Tomonobu. / A recurrent mutation in the 5′-UTR of IFITM5 causes osteogenesis imperfecta type V. In: American Journal of Medical Genetics, Part A. 2013 ; Vol. 161, No. 8. pp. 1980-1982.
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