A novel mutation in the G4.5 (TAZ) gene in a kindred with Barth syndrome

European Journal of Human Genetics

Volumn 11, Issue 1, 2003, Pages 97-101

  Vesel, Samo ^a   Stopar Obreza, Mirjam ^a   Trebušak Podkrajšek, Katarina ^a   Jazbec, Janez ^a   Podnar, Tomaž ^a   Battelino, Tadej ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Slovenia)

Author keywords

Barth syndrome; Dilated cardiomyopathy; G4.5 (TAZ) gene mutations; Neutropenia; Organic aciduria

Indexed keywords

ANTIBIOTIC AGENT; GENE PRODUCT; MESSENGER RNA; TAFAZZIN; UNCLASSIFIED DRUG;

ALTERNATIVE RNA SPLICING; ARTICLE; BARTH SYNDROME; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC PROCEDURE; EXON; FAMILY; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; HEART DILATATION; HUMAN; MALE; MUTATIONAL ANALYSIS; MYOPATHY; NEUTROPENIA; NUCLEOTIDE SEQUENCE; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; RELIABILITY; SCHOOL CHILD; SHORT STATURE; X CHROMOSOME LINKED DISORDER;

ALTERNATIVE SPLICING; CARDIOMYOPATHY, DILATED; CHILD; EXONS; FEMALE; GENES, RECESSIVE; GENETIC DISEASES, X-LINKED; HETEROZYGOTE; HUMANS; INFANT; MALE; MUSCULAR DISEASES; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; PROTEINS; SYNDROME; TRANSCRIPTION FACTORS;

EID: 0037269046     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200926     Document Type: Article

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