Two Novel AGXT Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation
Author:
Publisher
Frontiers Media SA
Subject
Pharmacology (medical),Pharmacology
Reference22 articles.
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3. Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele.;Fargue;J. Biol. Chem.,2013
4. Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from turkey.;Isiyel;Mol. Genet. Metab.,2016
5. Primary hyperoxaluria in infants.;Jellouli;Saudi J. Kidney Dis. Transpl.,2016
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