Identification of three novel mutations in fourteen patients with citrullinemia type 1
Author:
Funder
Swiss National Science Foundation
Publisher
Elsevier BV
Subject
Clinical Biochemistry,General Medicine
Reference14 articles.
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2. Urea cycle enzymes;Brusilow,2001
3. Outcome and survival of 88 patients with urea cycle disorders: a retrospective evaluation;Bachmann;Eur. J. Pediatr.,2003
4. Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotypephenotype correlation in 38 classical citrullinemia patients;Gao;Hum. Mutat.,2003
5. Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia;Häberle;Hum. Genet.,2002
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