Art

J-GLOBAL ID：200902281426288002   Reference number：08A0627750

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

シトリン欠乏患者で発見されたSLC25A13遺伝子の後方置換挿入と30突然変異の頻度を含む13の新しい突然変異の同定

Author (16)： TABATA Ayako (Kagoshima Univ. Graduate School of Medical and Dental Sci., Kagoshima, JPN) ,  SHENG Jian-Sheng (Kagoshima Univ. Graduate School of Medical and Dental Sci., Kagoshima, JPN) ,  USHIKAI Miharu (Kagoshima Univ. Graduate School of Medical and Dental Sci., Kagoshima, JPN) ,  SONG Yuan-Zong (Kagoshima Univ. Graduate School of Medical and Dental Sci., Kagoshima, JPN) ,  SONG Yuan-Zong (Jinan Univ., Guangzhou, CHN) ,  GAO Hong-Zhi (Kagoshima Univ. Graduate School of Medical and Dental Sci., Kagoshima, JPN) ,  GAO Hong-Zhi (Fujian Medical Univ., Quanzhou, CHN) ,  LU Yao-Bang (Kagoshima Univ. Graduate School of Medical and Dental Sci., Kagoshima, JPN) ,  LU Yao-Bang (Hunan Univ. Traditional Chinese Medicine, Changsha, CHN) ,  OKUMURA Fumihiko (Kagoshima Univ. Graduate School of Medical and Dental Sci., Kagoshima, JPN) ,  IIJIMA Mikio (Kagoshima Univ. Graduate School of Medical and Dental Sci., Kagoshima, JPN) ,  MUTOH Kozo (Shimada Municipal Hospital, Shizuoka, JPN) ,  KISHIDA Shosei (Kagoshima Univ. Graduate School of Medical and Dental Sci., Kagoshima, JPN) ,  SAHEKI Takeyori (Kagoshima Univ. Graduate School of Medical and Dental Sci., Kagoshima, JPN) ,  SAHEKI Takeyori (Tokushima Bunri Univ., Tokushima, JPN) ,  KOBAYASHI Keiko (Kagoshima Univ. Graduate School of Medical and Dental Sci., Kagoshima, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 53  Issue： 6  Page： 534-545  Publication year： 2008 
JST Material Number： Z0756A  ISSN： 1434-5161  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： human(primates) ,...
Semi thesaurus term： citrin ,...

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JST classification (4)： Genetic variation  (EC01030Y) ,  Nervous system diseases  (GN03000O) ,  Congenital diseases,deformities in general.  (GD03010V) ,  Metabolic diseases,nutritional diseases in general.  (GD05010J)

Substance index (1)： Aspartic Acid

Reference (52)：

• BABUSHOK, DV. Progress in understanding the biology of the human mutagen LINE-1. Hum Mutat. 2007, 28, 527-539
• BEN-SHALOM, E. Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids. Mol Genet Metab. 2002, 77, 202-208
• DIMMOCK, D. Citrin deficiency : a novel cause of failure to thrive that responds to a high protein, low carbohydrate diet. Pediatrics. 2007, 119, 773-777
• GAO, H-Z. Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients. Hum Mutat. 2003, 22, 24-34
• HAGIWARA, N. Hepatocellular carcinoma in a case of adult-onset type II citrullinemia. Intern Med. 2003, 42, 978-982

Terms in the title (9)： シトリン ,  欠乏 ,  患者 ,  発見 ,  SLC25A13遺伝子 ,  置換 ,  突然変異 ,  頻度 ,  同定