A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated β-myosin heavy chain genes

Human Genetics

Volumn 102, Issue 3, 1998, Pages 299-304

  Jeschke, Brigitte ^a   Uhl, Kerstin ^a   Weist, Bernd ^a   Schröder, Dirk ^a   Meitinger, Thomas ^b   Döhlemann, Christoph ^c   Vosberg, Hans Peter ^a  

^a MAX PLANCK INSTITUTE FOR HEART AND LUNG RESEARCH   (Germany)

^b UNIVERSITY OF MUNICH   (Germany)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; METHIONINE; MYOSIN HEAVY CHAIN; THREONINE; TRYPTOPHAN;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; EXON; FEMALE; GENE MUTATION; GENOTYPE; HEART ARREST; HETEROZYGOSITY; HIGH RISK POPULATION; HUMAN; HUMAN CELL; HYPERTROPHIC CARDIOMYOPATHY; MALE; MISSENSE MUTATION; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD;

AGE OF ONSET; CARDIOMYOPATHY, HYPERTROPHIC; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE; HUMANS; MALE; MYOSIN HEAVY CHAINS; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0031922826     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050695     Document Type: Article

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