Identification of 16 Novel Mutations in the Argininosuccinate Synthetase Gene and Genotype-Phenotype Correlation in 38 Classical Citrullinemia

TABATA A; GAO H-Z; IIJIMA M; SAHEKI T; KOBAYASHI K

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J-GLOBAL ID：200902203697129898 Reference number：03A0634880

Identification of 16 Novel Mutations in the Argininosuccinate Synthetase Gene and Genotype-Phenotype Correlation in 38 Classical Citrullinemia

アルギニノスクシネートシンターゼ遺伝子における16種類の新規な突然変異の同定と,38種類の古典的なシトルリン血症における遺伝子型と表現型の相関

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Material：
Volume： 75 Issue： 8 Page： 1026 Publication year： Aug. 25, 2003
JST Material Number： G0184A ISSN： 0037-1017 CODEN： SEIKAQ Document type： Article
Article type：短報 Country of issue： Japan (JPN) Language： ENGLISH (EN)

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Enzyme in general , Molecular genetics in general , Congenital diseases,deformities in general.

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