Tafazzin splice variants and mutations in Barth syndrome

Molecular Genetics and Metabolism

Volumn 111, Issue 1, 2014, Pages 26-32

  Kirwin, Susan M ^a   Manolakos, Athena ^a   Barnett, Sarah Swain ^a   Gonzalez, Iris L ^a  

^a NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

Author keywords

Alternative splicing; Barth syndrome; Cardiolipin; Dilated cardiomyopathy; Tafazzin; TAZ

Indexed keywords

MESSENGER RNA;

ALTERNATIVE RNA SPLICING; AMINO ACID SUBSTITUTION; ARTICLE; BARTH SYNDROME; BLOOD SAMPLING; CHROMOSOME XQ; CLINICAL ARTICLE; CONTROLLED STUDY; DROSOPHILA; EXON; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC VARIABILITY; HUMAN; INTRON; MALE; PRIORITY JOURNAL; TAFAZZIN GENE; YEAST; BLOOD ANALYSIS; COHORT ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; RNA TRANSLATION;

6-CARBOXYFLUORESCEIN, 5-6-FAM™; ALTERNATIVE SPLICING; BARTH SYNDROME; BTHS; CAPILLARY ELECTROPHORESIS; CARDIOLIPIN; CE; CL; DCM; DILATED CARDIOMYOPATHY; EBV; EDTA; EPSTEIN-BARR VIRUS; ETHYLENEDIAMINETETRAACETIC ACID; FAM; FL; FULL LENGTH; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HPLC; I-AAA PROTEASE; INTERMEMBRANE-AAA PROTEASE; LEFT VENTRICULAR NONCOMPACTION; LVNC; MLCL; MONOLYSOCARDIOLIPIN; NATIONAL HEART, LUNG, AND BLOOD INSTITUTE; NHLBI; PCR; PHA; PHYTOHEMAGGLUTININ; POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION; RT; TAFAZZIN; TAZ; UNTRANSLATED REGION; UTR; X-CHROMOSOME INACTIVATION; XCI;

ALTERNATIVE SPLICING; AMINO ACID SUBSTITUTION; BARTH SYNDROME; BLOOD SPECIMEN COLLECTION; CHROMOSOMES, HUMAN, X; EXONS; FEMALE; HUMANS; INTRONS; MALE; MUTATION, MISSENSE; PROTEIN ISOFORMS; RNA ISOFORMS; RNA, MESSENGER; TRANSCRIPTION FACTORS;

EID: 84891833473     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.11.006     Document Type: Article

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