Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome-Reference-Cited by-同舟云学术

Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome

Published:2015-03-18 Issue:12 Volume:23 Page:1708-1712
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Ferri Lorenzo,Donati Maria A,Funghini Silvia,Cavicchi Catia,Pensato Viviana,Gellera Cinzia,Natacci Federica,Spaccini Luigina,Gasperini Serena,Vaz Frédéric M,Cooper David N,Guerrini Renzo,Morrone Amelia

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201550.pdf

Reference34 articles.

1. Barth PG, Scholte HR, Berden JA et al: An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. J Neurol Sci 1983; 62: 327–355.

2. Clarke SL, Bowron A, Gonzalez IL et al: Barth syndrome. Orphanet J Rare Dis 2013; 8: 23.

3. Spencer CT, Bryant RM, Day J et al: Cardiac and clinical phenotype in Barth syndrome. Pediatrics 2006; 118: e337–e346.

4. Ferri L, Donati MA, Funghini S et al: New clinical and molecular insights on Barth syndrome. Orphanet J Rare Dis 2013; 8: 27.

5. Kelley RI, Cheatham JP, Clark BJ et al: X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. J Pediatr 1991; 119: 738–747.

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