turkesterone and Myositis-Ossificans

turkesterone has been researched along with Myositis-Ossificans* in 1 studies

Other Studies

1 other study(ies) available for turkesterone and Myositis-Ossificans

Article	Year
ACVR1 gene mutations in four Turkish patients diagnosed as fibrodysplasia ossificans progressiva. Gene, 2013, Feb-25, Volume: 515, Issue:2 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 HphI restrictive enzyme digestion. In the fourth patient, a heterozygote c.774G>T; p.R258S mutation in exon 5 was detected by DNA sequence analysis. Topics: Activin Receptors, Type I; Adolescent; Adult; Base Sequence; DNA Mutational Analysis; Ecdysterone; Female; Genetic Association Studies; Humans; Male; Molecular Sequence Data; Mutation, Missense; Myositis Ossificans; Polymorphism, Single Nucleotide; Young Adult	2013

Article

Year

ACVR1 gene mutations in four Turkish patients diagnosed as fibrodysplasia ossificans progressiva.

Gene, 2013, Feb-25, Volume: 515, Issue:2

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 HphI restrictive enzyme digestion. In the fourth patient, a heterozygote c.774G>T; p.R258S mutation in exon 5 was detected by DNA sequence analysis.

Topics: Activin Receptors, Type I; Adolescent; Adult; Base Sequence; DNA Mutational Analysis; Ecdysterone; Female; Genetic Association Studies; Humans; Male; Molecular Sequence Data; Mutation, Missense; Myositis Ossificans; Polymorphism, Single Nucleotide; Young Adult

2013