Identification of a missense mutation in the melusin-encoding ITGB1BP2 gene in a patient with dilated cardiomyopathy

Gene

Volumn 512, Issue 2, 2013, Pages 206-210

  Ruppert, Volker ^a   Meyer, Thomas ^b   Richter, Anette ^a   Maisch, Bernhard ^a   Pankuweit, Sabine ^a  

^a UNIVERSITY HOSPITAL MARBURG   (Germany)

^b UNIVERSITY OF GÖTTINGEN   (Germany)

Author keywords

Dilated cardiomyopathy; Genetic variation; Melusin; Mutations

Indexed keywords

ALANINE; CARDIAC ANKYRIN REPEAT DOMAIN 1; CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; DESMIN; DYSTROPHIN; EPICARDIN; INTEGRIN BETA 1 BINDING PROTEIN 2; LAMIN A; MYOCARDIN; MYOPALLADIN; MYOSIN BINDING PROTEIN C; PHOSPHOLAMBAN; PROTEIN; TAFAZZIN; TELETHONIN; TROPONIN T; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; GENETIC VARIABILITY; HEART FAILURE; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM;

AMINO ACID SUBSTITUTION; CARDIOMYOPATHY, DILATED; CYTOSKELETAL PROTEINS; FEMALE; GERMANY; HEART FAILURE; HUMANS; MALE; MIDDLE AGED; MUSCLE PROTEINS; MUTATION, MISSENSE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84870367934     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.10.055     Document Type: Article

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