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Qualitative and quantitative abnormalities of argininosuccinate synthetase in citrullinemia

✍ Scribed by Takeyori Saheki; Atsuko Ueda; Masakazu Hosoya; Kimiko Kusumi; Shigeo Takada; Michio Tsuda; Tsunehiko Katsunuma

Book ID
115823592
Publisher
Elsevier Science
Year
1981
Tongue
English
Weight
848 KB
Volume
109
Category
Article
ISSN
0009-8981

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Structure of an abnormal messenger RNA f
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The structural abnormality of mRNA for argininosuccinate synthetase (ASS) and the structure of immune cross-reactive material for ASS (ASS-CRM) in the liver of a patient with type III citrullinemia were analyzed using dot and Northern blot hybridization, S1 nuclease analysis, and a sensitive enzyme-

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Classical citrullinemia (CTLN1), a rare autosomal recessive disorder, is caused by mutations of the argininosuccinate synthetase (ASS) gene, localized on chromosome 9q34.1. ASS functions as a rate-limiting enzyme in the urea cycle. Previously, we identified 32 mutations in the ASS gene of CTLN1 pati