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...

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Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2012
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Online toegang: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
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