Mutation Characterization and Genotype-Phenotype Correlation in Barth Syndrome-Reference-Cited by-同舟云学术

Mutation Characterization and Genotype-Phenotype Correlation in Barth Syndrome

Published:1997-11 Issue:5 Volume:61 Page:1053-1058
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Johnston Jennifer,Kelley Richard I.,Feigenbaum Annette,Cox Gerald F.,Iyer Geeta S.,Funanage Vicky L.,Proujansky Roy

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference17 articles.

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

2. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts;Barth;J Inherit Metab Dis,1996

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

4. Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome;Bleyl;Am J Hum Genet,1997

5. Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28;Bolhuis;Am J Hum Genet,1991

Cited by 124 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Phenotypic Characterization of Female Carrier Mice Heterozygous for Tafazzin Deletion;Biology;2023-09-14

2. Analysis of tafazzin and deoxyribonuclease 1 like 1 transcripts and X chromosome sequencing in the evaluation of the effect of mosaicism in the TAZ gene on phenotypes in a family affected by Barth syndrome;Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis;2023-01

3. Disorders of Intracellular Triglyceride and Phospholipid Metabolism;Inborn Metabolic Diseases;2022

4. Cardiolipin function in the yeast S. cerevisiae and the lessons learned for Barth syndrome;Journal of Inherited Metabolic Disease;2021-10-19

5. Mechano‐energetic aspects of Barth syndrome;Journal of Inherited Metabolic Disease;2021-09-09