SLC25A13 gene mutations in Taiwanese patients with non-viralhepatocellular carcinoma

The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

Keiko Kobayashi, David S. Sinasac, Mikio Iijima et al. · Nature Genetics · 1999 · 414 citations

Life Sciences, Genetics, Molecular Genetics +8

Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency

Ayako Tabata, Jian-sheng Sheng, Miharu Ushikai et al. · Journal of Human Genetics · 2008 · 131 citations

Life Sciences, Genetics, Molecular Genetics +9

Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency

Yao Lu, Keiko Kobayashi, Miharu Ushikai et al. · Journal of Human Genetics · 2005 · 119 citations

Life Sciences, Genetics, Molecular Genetics +7

Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations

Naoki Yamaguchi, Keiko Kobayashi, Tomotsugu Yasuda et al. · Human Mutation · 2002 · 101 citations

Life Sciences, Genetics, Molecular Genetics +17

Citrin deficiency, a perplexing global disorder

David Dimmock, Bruno Maranda, Carlo Dionisi‐Vici et al. · Molecular Genetics and Metabolism · 2008 · 89 citations

Life Sciences, Genetics, Molecular Genetics +8