A Novel TAZ Gene Mutation and Mosaicism in a Polish Family with Barth Syndrome

Annals of Human Genetics

Volumn 79, Issue 3, 2015, Pages 218-224

  Zapała, Barbara ^a   Płatek, Teresa ^a   Wybrańska, Iwona ^a  

^a JAGIELLONIAN UNIVERSITY   (Poland)

Author keywords

Barth Syndrome; cardiomyopathy; inherited mosaicism; tafazzin; TAZ gene

Indexed keywords

3 METHYLGLUTACONIC ACID; CELL DNA; GENOMIC DNA; PROTEIN; TAFAZZIN; UNCLASSIFIED DRUG; TAZ PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ACIDURIA; ACUTE HEART FAILURE; ARTICLE; BARTH SYNDROME; BIOCHEMICAL ANALYSIS; BLOOD SAMPLING; CASE REPORT; CHILD; CLINICAL ARTICLE; CLINICAL EVALUATION; CONGESTIVE CARDIOMYOPATHY; DIARRHEA; DNA SEQUENCE; DYSPNEA; ECHOCARDIOGRAPHY; EPITHELIUM CELL; FAMILY HISTORY; FEEDING DIFFICULTY; FEMALE; GENE MUTATION; GENETIC SCREENING; HEART FAILURE; HEART FUNCTION; HEMIZYGOSITY; HETEROZYGOSITY; HUMAN; INBORN ERROR OF METABOLISM; MALE; MASS FRAGMENTOGRAPHY; MOLECULAR PATHOLOGY; MOSAICISM; NEUTROPENIA; PHYSICAL EXAMINATION; POLISH CITIZEN; PRIORITY JOURNAL; SANGER SEQUENCING; SEPTIC SHOCK; STAPHYLOCOCCUS INFECTION; SYSTOLIC HEART MURMUR; EXON; GENETICS; INFANT; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; POLAND;

BARTH SYNDROME; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HUMANS; INFANT; MALE; MOSAICISM; MUTATION; PEDIGREE; POLAND; TRANSCRIPTION FACTORS;

EID: 85027956108     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/ahg.12108     Document Type: Article

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