Mutations and DNA diagnoses of classical citrullinemia. - Ass gene classical citrullinemia

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Synonyms: Argininosuccinate Synthetase Deficiency, Argininosuccinic Acid Synthetase Deficiency, ASS Deficiency, Classic Citrullinemia. Classical citrullinemia is an autosomal recessive disease caused by a genetic deficiency of argininosuccinate synthetase (ASS). We have previously identified.

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By Kigazshura - 17:51
Citrullinemia type I (CTLN1) is a rare autosomal recessive genetic disorder that The classic form, characterized by profound lack of ASS enzyme activity.
By Zulkirn - 04:47
Citrullinemia is an autosomal recessive urea cycle disorder that causes ammonia and other Mutations in the ASS gene cause type I citrullinemia. Citrullinemia, Classic · GeneReviews/NIH/UW entry on Citrin deficiency and Citrullinemia.
By Mikabei - 06:49
Mutations in the ASS1 gene provide instructions to make ASS which is Without treatment, classical citrullinemia type I generally presents in the first week of life.
By Kazranris - 03:53
Thus, our findings contribute to understanding the molecular genetic background (ASS, EC ) enzyme due to mutations in the ASS1 gene [1]. fatal neonatal hyperammonemia are said to have classical citrullinemia.

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