Journal
GENE
Volume 515, Issue 2, Pages 444-446Publisher
ELSEVIER
DOI: 10.1016/j.gene.2012.12.005
Keywords
FOP; ACVR1; c.617G > A; p.R206H; c.774G > T; p.R258S
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Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease characterized with congenital malformations of the great toes and progressive heterotopic ossifications in the skeletal muscles and soft tissue. FOP has been associated with a specific point mutation on the ACVR1 (Activin A receptor type I) gene. Four sporadic cases clinically diagnosed as FOP have been included in this study for mutational analysis. In three patients, heterozygote c.617G>A; p.R206H mutation was detected by both DNA sequence analyses and by Hphl restrictive enzyme digestion. In the fourth patient, a heterozygote c.774G>T; p.R258S mutation in exon 5 was detected by DNA sequence analysis. (C) 2012 Elsevier B.V. All rights reserved.
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