A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V-Reference-Cited by-同舟云学术

A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V

Published:2012-08 Issue:2 Volume:91 Page:343-348
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Cho Tae-Joon,Lee Kyung-Eun,Lee Sook-Kyung,Song Su Jeong,Kim Kyung Jin,Jeon Daehyun,Lee Gene,Kim Ha-Neui,Lee Hye Ran,Eom Hye-Hyun,Lee Zang Hee,Kim Ok-Hwa,Park Woong-Yang,Park Sung Sup,Ikegawa Shiro,Yoo Won Joon,Choi In Ho,Kim Jung-Wook

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference16 articles.

1. Genetic heterogeneity in osteogenesis imperfecta;Sillence;J. Med. Genet.,1979

2. Osteogenesis imperfecta;Rauch;Lancet,2004

3. Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta;Becker;Am. J. Hum. Genet.,2011

4. CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta;Morello;Cell,2006

5. Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta;Cabral;Nat. Genet.,2007

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