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Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency.
Lu, Yao Bang; Kobayashi, Keiko; Ushikai, Miharu; Tabata, Ayako; Iijima, Mikio; Li, Meng Xian; Lei, Lei; Kawabe, Kotaro; Taura, Satoru; Yang, Yanling; Liu, Tze-Tze; Chiang, Szu-Hui; Hsiao, Kwang-Jen; Lau, Yu-Lung; Tsui, Lap-Chee; Lee, Dong Hwan; Saheki, Takeyori.
  • Lu YB; Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima 890-8544, Japan.
  • Kobayashi K; Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima 890-8544, Japan. dodoko12@m.kufm.kagoshima-u.ac.jp.
  • Ushikai M; Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima 890-8544, Japan.
  • Tabata A; Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima 890-8544, Japan.
  • Iijima M; Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima 890-8544, Japan.
  • Li MX; Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima 890-8544, Japan.
  • Lei L; Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima 890-8544, Japan.
  • Kawabe K; Division of Gene Research, Research Centre for Life Science Resources, Kagoshima University, Kagoshima, Japan.
  • Taura S; Division of Gene Research, Research Centre for Life Science Resources, Kagoshima University, Kagoshima, Japan.
  • Yang Y; Department of Pediatrics, The First Hospital of Peking University, Beijing, China.
  • Liu TT; Genome Research Center, National Yang-Ming University, Taipei, Taiwan, ROC.
  • Chiang SH; Taipei Veterans General Hospital, Taipei, Taiwan, ROC.
  • Hsiao KJ; Taipei Veterans General Hospital, Taipei, Taiwan, ROC.
  • Lau YL; Department of Pediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong SAR, People's Republic of China.
  • Tsui LC; Vice Chancellor's Office, The University of Hong Kong, Hong Kong SAR, People's Republic of China.
  • Lee DH; Department of Pediatrics, Soonchunhyang University Hospital, Seoul, Korea.
  • Saheki T; Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima 890-8544, Japan.
J Hum Genet ; 50(7): 338-346, 2005.
Article en En | MEDLINE | ID: mdl-16059747
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas de Transporte de Membrana / Proteínas de Unión al Calcio / Citrulinemia / Transportadores de Anión Orgánico / Proteínas Mitocondriales / Mutación Límite: Humans País como asunto: Asia Idioma: En Año: 2005 Tipo del documento: Article
Texto completo
Imprimir
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PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas de Transporte de Membrana / Proteínas de Unión al Calcio / Citrulinemia / Transportadores de Anión Orgánico / Proteínas Mitocondriales / Mutación Límite: Humans País como asunto: Asia Idioma: En Año: 2005 Tipo del documento: Article