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ACVR1 gene mutations in four Turkish patients diagnosed as fibrodysplasia ossificans progressiva. (Yazicioglu, Cigdem Eresen.)
Bibliographical information (record 266980)
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ACVR1 gene mutations in four Turkish patients diagnosed as fibrodysplasia ossificans progressiva.
Author:
 Yazicioglu, Cigdem Eresen. Search Author in Amazon Books

Publisher:
Elsevier,
Edition:
 2013.
Classification:
 QH430
URL:
http://library.neu.edu.tr:2048/login?url=http://dx.doi.org/10.1016/j.gene.2012.12.005
Detailed notes
    - 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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Section
EOL-1458
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NEU Grand LibraryOnline (QH430 .A28 2013)
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