Condition: Hyperargininemia


rs28941474 in ARG1 gene and Hyperargininemia PMID 1463019 1992 Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia.

PMID 22959135 2012 Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes.

PMID 23859858 2013 Five novel mutations in ARG1 gene in Chinese patients of argininemia.

PMID 7649538 1995 Molecular basis of phenotypic variation in patients with argininemia.

rs771395982 in ARG1;MED23 gene and Hyperargininemia PMID 18957279 2009 Studies on the functional significance of a C-terminal S-shaped motif in human arginase type I: essentiality for cooperative effects.

rs104893940 in MED23;ARG1 gene and Hyperargininemia PMID 24103480 2014 Novel complex re-arrangement of ARG1 commonly shared by unrelated patients with hyperargininemia.

PMID 8902193 1996 Loss of function mutations in conserved regions of the human arginase I gene.

PMID 18957279 2009 Studies on the functional significance of a C-terminal S-shaped motif in human arginase type I: essentiality for cooperative effects.

PMID 1598908 1992 Molecular genetic study of human arginase deficiency.

PMID 27038030 2016 Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.

PMID 19052914 2008 Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency.

PMID 22959135 2012 Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes.

PMID 7649538 1995 Molecular basis of phenotypic variation in patients with argininemia.

PMID 23859858 2013 Five novel mutations in ARG1 gene in Chinese patients of argininemia.

PMID 1463019 1992 Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia.

PMID 10502833 1999 Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia.

PMID 21802329 2012 Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported?

PMID 11883902 2002 Functional consequences of the G235R mutation in liver arginase leading to hyperargininemia.

PMID 12052859 2002 Mouse model for human arginase deficiency.

PMID 26169240 2015 Characterization and mRNA expression analysis of a novel ARG1 splicing mutation causing hyperargininemia.

PMID 7981719 1994 Identification of mutations (D128G, H141L) in the liver arginase gene of patients with hyperargininemia.