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ACVR1 gene mutations in four Turkish patients diagnosed as fibrodysplasia ossificans progressiva.
Gene. 2013 Feb 25; 515(2):444-6.GENE

Abstract

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.

Authors+Show Affiliations

Dokuz Eylül University, Faculty of Medicine, Dept. of Medical Biology, İzmir, Turkey. cigdem.eresen@deu.edu.trNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

23260810

Citation

Eresen Yazıcıoğlu, Ciğdem, et al. "ACVR1 Gene Mutations in Four Turkish Patients Diagnosed as Fibrodysplasia Ossificans Progressiva." Gene, vol. 515, no. 2, 2013, pp. 444-6.
Eresen Yazıcıoğlu C, Karatosun V, Kızıldağ S, et al. ACVR1 gene mutations in four Turkish patients diagnosed as fibrodysplasia ossificans progressiva. Gene. 2013;515(2):444-6.
Eresen Yazıcıoğlu, C., Karatosun, V., Kızıldağ, S., Ozsoylu, D., & Kavukçu, S. (2013). ACVR1 gene mutations in four Turkish patients diagnosed as fibrodysplasia ossificans progressiva. Gene, 515(2), 444-6. https://doi.org/10.1016/j.gene.2012.12.005
Eresen Yazıcıoğlu C, et al. ACVR1 Gene Mutations in Four Turkish Patients Diagnosed as Fibrodysplasia Ossificans Progressiva. Gene. 2013 Feb 25;515(2):444-6. PubMed PMID: 23260810.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - ACVR1 gene mutations in four Turkish patients diagnosed as fibrodysplasia ossificans progressiva. AU - Eresen Yazıcıoğlu,Ciğdem, AU - Karatosun,Vasfi, AU - Kızıldağ,Sefa, AU - Ozsoylu,Dua, AU - Kavukçu,Salih, Y1 - 2012/12/20/ PY - 2012/11/14/received PY - 2012/12/03/accepted PY - 2012/12/25/entrez PY - 2012/12/25/pubmed PY - 2013/3/27/medline SP - 444 EP - 6 JF - Gene JO - Gene VL - 515 IS - 2 N2 - 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. SN - 1879-0038 UR - https://www.unboundmedicine.com/medline/citation/23260810/ACVR1_gene_mutations_in_four_Turkish_patients_diagnosed_as_fibrodysplasia_ossificans_progressiva_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0378-1119(12)01508-9 DB - PRIME DP - Unbound Medicine ER -