The BAG3 gene variants in Polish patients with dilated cardiomyopathy: Four novel mutations and a genotype-phenotype correlation

Journal of Translational Medicine

Volumn 12, Issue 1, 2014, Pages

  Franaszczyk, Maria ^a   Bilinska, Zofia T ^a   Sobieszczańska Małek, Małgorzata ^a   Michalak, Ewa ^a   Sleszycka, Justyna ^a   Sioma, Agnieszka ^a   Małek, Łukasz A ^a   Kaczmarska, Dorota ^a   Walczak, Ewa ^b   Włodarski, Paweł ^c   Hutnik, Łukasz ^c   Milanowska, Blanka ^a   Dzielinska, Zofia ^a   Religa, Grzegorz ^a   Grzybowski, Jacek ^a   Zieliński, Tomasz ^a   Ploski, Rafal ^c  

^a INSTITUTE OF CARDIOLOGY   (Poland)

^b INSTITUTE OF RHEUMATOLOGY   (Poland)

^c MEDICAL UNIVERSITY OF WARSAW   (Poland)

Author keywords

BAG3; Dilated cardiomyopathy; Inherited heart disease; Mutation; Penetrance

Indexed keywords

ALANINE; ARGININE; GLUTAMIC ACID; GLUTAMINE; GLYCINE; LYSINE; TYROSINE; APOPTOSIS REGULATORY PROTEIN; BAG3 PROTEIN, HUMAN; PRIMER DNA; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ARTICLE; BAG3 GENE; CLINICAL FEATURE; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; ETHNIC GROUP; EXON; FEMALE; GENE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; ONSET AGE; PEDIGREE ANALYSIS; POINT MUTATION; POLISH; REAL TIME POLYMERASE CHAIN REACTION; TRUNCATING MUTATION; GENETICS; GENOTYPE; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PHENOTYPE; POLAND;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; APOPTOSIS REGULATORY PROTEINS; BASE SEQUENCE; CARDIOMYOPATHY, DILATED; DNA PRIMERS; EXONS; FEMALE; GENOTYPE; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; POLAND; REAL-TIME POLYMERASE CHAIN REACTION;

EID: 84903865896     PISSN: None     EISSN: 14795876     Source Type: Journal    
DOI: 10.1186/1479-5876-12-192     Document Type: Article

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