| A novel mutation in the G4.5 (TAZ) gene in a Greek patient with Barth syndrome. | |
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MedLine Citation:
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PMID: 19261493 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Barth Syndrome (BTHS) is a rare X-linked recessive inborn error of metabolism, which is characterized by dilated cardiomyopathy, neutropenia, skeletal myopathy and short stature. Barth Syndrome is associated with mutations in the tafazzin (TAZ) gene at Xq28 that result in cardiolipin deficiency and abnormal mitochondria. Here we report a 5.5-month old boy with BTHS phenotype who carries a novel missense T43P mutation in exon 2 of the TAZ gene. |
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Authors:
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Theodora Bachou; Aris Giannakopoulos; Christina Trapali; Andriani Vazeou; Antonis Kattamis |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2009-03-03 |
Journal Detail:
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Title: Blood cells, molecules & diseases Volume: 42 ISSN: 1096-0961 ISO Abbreviation: Blood Cells Mol. Dis. Publication Date: 2009 May-Jun |
Date Detail:
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Created Date: 2009-04-21 Completed Date: 2009-08-20 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9509932 Medline TA: Blood Cells Mol Dis Country: United States |
Other Details:
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Languages: eng Pagination: 262-4 Citation Subset: IM |
Affiliation:
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First Department of Pediatrics 'A & P Kyriakou' Children's Hospital, Athens. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Amino Acid Substitution Cardiomyopathies / genetics* Chromosomes, Human, X / genetics Exons / genetics Female Genetic Diseases, X-Linked / genetics* Genotype Greece Growth Disorders / genetics Humans Infant Male Mutation, Missense* Neutropenia / genetics* Pedigree Phenotype Point Mutation* Syndrome Transcription Factors / deficiency, genetics* |
| Chemical | |
Reg. No./Substance:
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0/TAZ protein, human; 0/Transcription Factors |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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