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
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Volume: 53  Issue: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: Japan (JPN)  Language: ENGLISH (EN)
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Genetic variation  ,  Nervous system diseases  ,  Congenital diseases,deformities in general.  ,  Metabolic diseases,nutritional diseases in general. 
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