A child cohort study from southern Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy

Clinical Genetics

Volumn 76, Issue 1, 2009, Pages 91-101

  Frisso, G ^a,b   Limongelli, G ^c   Pacileo, G ^c   Del Giudice, A ^a,b   Forgione, L ^a,b   Calabro P ^c   Iacomino, M ^c   Detta, N ^a,b   Di Fonzo, L M ^a,b   Maddaloni, V ^c   Calabro R ^c   Salvatore, Francesco ^a,b  

^a CEINGE BIOTECNOLOGIE AVANZATE   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c SECOND UNIVERSITY OF NAPLES   (Italy)

Author keywords

Children cardiomyopathy; HCM; HCM genetic heterogeneity; Hypertrophic cardiomyopathy

Indexed keywords

ALPHA TROPOMYOSIN; ESSENTIAL MYOSIN LIGHT CHAIN 3; MYOSIN BINDING PROTEIN C; MYOSIN HEAVY CHAIN; MYOSIN HEAVY CHAIN 7; MYOSIN HEAVY CHAIN ALPHA; MYOSIN LIGHT CHAIN; REGULATORY MYOSIN LIGHT CHAIN 2; TROPONIN I; TROPONIN T; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EARLY DIAGNOSIS; FAMILY STUDY; FEMALE; GENE AMPLIFICATION; GENE FREQUENCY; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; ITALY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; AGE OF ONSET; CARDIOMYOPATHY, HYPERTROPHIC; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; FOLLOW-UP STUDIES; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; ITALY; MALE; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PREVALENCE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICE SITES; SARCOMERES;

EID: 67651031014     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01190.x     Document Type: Article

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