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

Blood Cells, Molecules, and Diseases

Volumn 42, Issue 3, 2009, Pages 262-264

  Bachou, Theodora ^a   Giannakopoulos, Aris ^b   Trapali, Christina ^a   Vazeou, Andriani ^a   Kattamis, Antonis ^b  

^a P Kyriakou' Children's Hospital

^b AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

Author keywords

Barth syndrome; Novel mutation; TAZ gene

Indexed keywords

CARDIOLIPIN; DIGOXIN; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; DIURETIC AGENT; GENOMIC DNA; GRANULOCYTE COLONY STIMULATING FACTOR;

ARTICLE; BARTH SYNDROME; CASE REPORT; CONGESTIVE CARDIOMYOPATHY; DISEASE COURSE; GENE; GREECE; HEART FAILURE; HUMAN; INBORN ERROR OF METABOLISM; INFANT; LOW DRUG DOSE; MALE; MISSENSE MUTATION; MITOCHONDRION; NEUTROPENIA; PHENOTYPE; PRIORITY JOURNAL; SHORT STATURE; TAFAZZIN GENE;

ADULT; AMINO ACID SUBSTITUTION; CARDIOMYOPATHIES; CHROMOSOMES, HUMAN, X; EXONS; FEMALE; GENETIC DISEASES, X-LINKED; GENOTYPE; GREECE; GROWTH DISORDERS; HUMANS; INFANT; MALE; MUTATION, MISSENSE; NEUTROPENIA; PEDIGREE; PHENOTYPE; POINT MUTATION; SYNDROME; TRANSCRIPTION FACTORS;

EID: 64649098949     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2008.11.004     Document Type: Article

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