Novel missense mutation (R94S) in the TAZ (G4.5) gene in a Japanese patient with Barth syndrome

@article{Sakamoto2002NovelMM,
  title={Novel missense mutation (R94S) in the TAZ (G4.5) gene in a Japanese patient with Barth syndrome},
  author={Osamu Sakamoto and Toshiyuki Kitoh and Toshihiro Ohura and Noriaki Ohya and Kazuie Iinuma},
  journal={Journal of Human Genetics},
  year={2002},
  volume={47},
  pages={229-231}
}
AbstractBarth syndrome (BTHS) is a rare X-linked disorder characterized by cardiomyopathy, short stature, neutropenia, and 3-methylglutaconic aciduria. Mutations have been identified in the TAZ (G4.5) gene in patients with BTHS. This article presents a mutation analysis of this gene in a Japanese boy with cardiomyopathy with abnormal mitochondria, cyclic neutropenia, and 3-methylglutaconic aciduria (type 2). The analysis revealed a novel missense mutation (R94S) caused by a single nucleotide… CONTINUE READING

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