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Article

ACVR1 gene mutation in sporadic Korean patients with fibrodysplasia ossificans progressiva.

Journal of Korean medical science - 1 Jun 2009

Lee Dong Yeon, Cho Tae-Joon, Lee Hye Ran, Park Moon Seok, Yoo Won Joon, Chung Chin Youb, Choi In Ho

Abstract excerpt

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...

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Identifiers

PMID: 19543505
DOI: 10.3346/jkms.2009.24.3.433
PMCID: PMC2698188

Genes

ACVR1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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ACVR1 gene mutation in sporadic Korean patients with fibrodysplasia ossificans progressiva.PMID 19543505Read ↗

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