Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family

Author:

Elsayed Liena E. O.,Mohammed Inaam N.,Hamed Ahlam A. A.,Elseed Maha A.,Salih Mustafa A. M.,Yahia Ashraf,Abubaker Rayan,Koko Mahmoud,Abd Allah Amal S. I.,Elbashir Mustafa I.,Ibrahim Muntaser E.,Brice Alexis,Ahmed Ammar E.,Stevanin Giovanni

Publisher

Frontiers Media SA

Subject

Neurology (clinical),Neurology

Reference26 articles.

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2. Adult-onset arginase deficiency;Cowley;J Inherit Metab Dis.,1998

3. Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency;Scaglia;Am J Med Genet C Semin Med Genet.,2006

4. Arginase deficiency presenting as cerebral palsy;Scheuerle;Pediatrics.,1993

5. Molecular basis of argininemia. Identification of two discrete frame-shift deletions in the liver-type arginase gene;Haraguchi;J Clin Invest.,1990

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