A case of compound mutations in the MYBPC3 gene associated with biventricular hypertrophy and neonatal death

Neonatology

Volumn 102, Issue 4, 2012, Pages 254-258

  Marziliano, Nicola ^a,b   Merlini, Piera Angelica ^a   Vignati, Gabriele ^a   Orsini, Francesco ^a   Motta, Valentina ^a   Bandiera, Laura ^a   Intrieri, Mariano ^b   Veronese, Silvio ^a  

^a OSPEDALE NIGUARDA CA GRANDA   (Italy)

^b UNIVERSITY OF MOLISE   (Italy)

Author keywords

Hypertrophic cardiomyopathy; MYBPC3 gene; Neonatal death

Indexed keywords

ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENOTYPE; HEART BIVENTRICULAR HYPERTROPHY; HETEROZYGOSITY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MALE; MISSENSE MUTATION; MYBPC3 GENE; NEWBORN; NEWBORN DEATH; PRIORITY JOURNAL; SARCOMERE;

CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL; CARRIER PROTEINS; FATAL OUTCOME; FEMALE; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; PEDIGREE; RNA SPLICE SITES;

EID: 84865050969     PISSN: 16617800     EISSN: 16617819     Source Type: Journal    
DOI: 10.1159/000339847     Document Type: Article

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