Ontology highlight
ABSTRACT:
SUBMITTER: Lee DY
PROVIDER: S-EPMC2698188 | biostudies-literature | 2009 Jun
REPOSITORIES: biostudies-literature
Lee Dong Yeon DY Cho Tae-Joon TJ Lee Hye Ran HR Park Moon Seok MS Yoo Won Joon WJ Chung Chin Youb CY Choi In Ho IH
Journal of Korean medical science 20090612 3
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 in the activin A type I receptor (ACVR1) gene has been reported to be a causative mutation of FOP. In the present study, mutation analysis of the ACVR1 gene was performed in 12 patients diagnosed or susp ...[more]