Confirmation of the recurrent ACVR1 617G>A mutation in South Africans with fibrodysplasia ossificans progressiva

South African Medical Journal

Volumn 102, Issue 7, 2012, Pages 631-633

  Dandara, Collet ^a   Scott, Chris ^a   Urban, Mike ^b   Fieggen, Karen ^a   Arendse, Regan ^c   Beighton, Peter ^a  

^a UNIVERSITY OF CAPE TOWN   (South Africa)

^b UNIVERSITY OF STELLENBOSCH   (South Africa)

^c UNIVERSITY OF CAPE TOWN   (South Africa)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVIN RECEPTOR 1;

ACTIVIN A TYPE 1 RECEPTOR GENE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; GENE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; MALE; MUTATIONAL ANALYSIS; OSSIFYING MYOSITIS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SOUTH AFRICA;

EID: 84863736882     PISSN: 02569574     EISSN: None     Source Type: Journal    
DOI: 10.7196/samj.5519     Document Type: Article

References (8)

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2. Kaplan FS, Xu M, Seemann P, et al. Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. Hum Mutat 2009a;30:379-390.
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8. Yu PB, Deng DY, Lai CS, et al. BMP type I receptor inhibition reduces heterotopic ossification. Nature Medicine 2008;14:1363-1369.