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

Osteogenesis imperfecta (OI) is a heterogenous group of genetic disorders of bone fragility. OI type V is an autosomal-dominant disease characterized by calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus form...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2012
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3415533/
https://ncbi.nlm.nih.gov/pubmed/22863190
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.06.005
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados