a Record control number 000315307100031

a ISSN 0378-1119

a Original cataloging agency NEU GrandLibrary

a Language code of text/sound track or separate title eng

a Classification number QH430

b Item number .A28 2013

a Personal name Yazicioglu, Cigdem Eresen.

h Medium Electronic Document

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

c Statement of responsibility, etc Çiğdem Eresen Yazıcıoğlu, Vasfi Karatosun, Sefa Kızıldağ, Dua Özsoylu, Salih Kavukçu.

b Name of publisher, distributor, etc Elsevier,

c Date of publication, distribution, etc 2013.

a Place of publication, distribution, etc Amsterdam :

a Summary, etc 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.

a Topical term or geographic name as entry element Genetics

a Topical term or geographic name as entry element Near East University Article

a Topical term or geographic name as entry element Yakın Doğu Üniversitesi Makale

a Topical term or geographic name as entry element Genetics & Heredity

a Topical term or geographic name as entry element ACVR1

a Main entry heading Gene

g Relationship information FEB 25 2013, Vol 515 Issue 2, p444-446

x International Standard Serial Number 03781119

u Uniform Resource Identifier http://library.neu.edu.tr:2048/login?url=http://dx.doi.org/10.1016/j.gene.2012.12.005