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

Gene

Volumn 515, Issue 2, 2013, Pages 444-446

  Eresen Yazicioǧlu, Çiǧdem ^a   Karatosun, Vasfi ^a   Kizildaǧ, Sefa ^a   Özsoylu, Dua ^a   Kavukçu, Salih ^a  

^a DOKUZ EYLUL UNIVERSITY   (Turkey)

Author keywords

ACVR1; C.617G>A; p.R206H; C.774G>T; p.R258S; FOP

Indexed keywords

ACTIVIN RECEPTOR LIKE KINASE 1;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; DNA SEQUENCE; EXON; FEMALE; FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN TISSUE; MALE; NUCLEOTIDE SEQUENCE; OSSIFYING MYOSITIS; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TURKEY (REPUBLIC);

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;

EID: 84872485722     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.12.005     Document Type: Article

References (13)

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