When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription-Reference-Cited by-同舟云学术

When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription

Published:2016-03-04 Issue:5 Volume:90 Page:461-465
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Ferri L.¹²,Dionisi-Vici C.³,Taurisano R.³,Vaz F. M.⁴,Guerrini R.¹²,Morrone A.¹²

Affiliation:

1. Paediatric Neurology Unit and Laboratories, Neuroscience Department; Meyer Children's Hospital; Florence Italy

2. Neuroscience, Psychology, Pharmacology and Child Health Department; University of Florence; Florence Italy

3. Department of Pediatric Medicine, Division of Metabolism and Research Unit of Metabolic Biochemistry; Bambino Gesù Children's Research Hospital; Rome Italy

4. Department of Clinical Chemistry and Paediatrics, Academic Medical Center; University of Amsterdam; Amsterdam Netherlands

Funder

Fondazione Meyer ONLUS

Giovani Ricercatori-2a edizione

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12756/fullpdf

Reference22 articles.

1. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes;Barth;J Neurol Sci,1983

2. New clinical and molecular insights on Barth syndrome;Ferri;Orphanet J Rare Dis,2013

3. Cardiac and clinical phenotype in Barth syndrome;Spencer;Pediatrics,2006

4. Barth syndrome;Clarke;Orphanet J Rare Dis,2013

5. A novel X-linked gene, G4.5. is responsible for Barth syndrome;Bione;Nat Genet,1996

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