ACVR1 Gene Mutation in Sporadic Korean Patients with Fibrodysplasia Ossificans Progressiva

Fibrodysplasia ossificans progressiva (FOP; OMIM 135100) is a rare but extremely disabling genetic disorder of the skeletal system, and is characterized by the progressive development of ectopic ossification of skeletal muscles and subsequent joint ankylosis. The c.617G>A; p.R206H point mutation...

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Autors principals: Lee, Dong Yeon, Cho, Tae-Joon, Lee, Hye Ran, Park, Moon Seok, Yoo, Won Joon, Chung, Chin Youb, Choi, In Ho
Format: Artigo
Idioma:Inglês
Publicat: The Korean Academy of Medical Sciences 2009
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Original Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2698188/
https://ncbi.nlm.nih.gov/pubmed/19543505
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2009.24.3.433
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