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

TABATA Ayako; SHENG Jian-Sheng; USHIKAI Miharu; SONG Yuan-Zong; SONG Yuan-Zong; GAO Hong-Zhi; GAO Hong-Zhi; LU Yao-Bang; LU Yao-Bang; OKUMURA Fumihiko; IIJIMA Mikio; MUTOH Kozo; KISHIDA Shosei; SAHEKI Takeyori; SAHEKI Takeyori; KOBAYASHI Keiko

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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

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Material：
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)

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Genetic variation , Nervous system diseases , Congenital diseases,deformities in general. , Metabolic diseases,nutritional diseases in general.

Reference (52)：

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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

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