Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome.
Harambat, Jérôme
Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome. [electronic resource] - Kidney international Mar 2010 - 443-9 p. digital
Publication Type: Journal Article
1523-1755
10.1038/ki.2009.435 doi
Amino Acid Substitution
Arginine--metabolism
Child
Child, Preschool
Cohort Studies
Genotype
Heterozygote
Homozygote
Humans
Hyperoxaluria, Primary--diagnosis
Infant
Kidney Failure, Chronic--genetics
Mutation
Phenotype
Prognosis
Retrospective Studies
Transaminases--genetics
Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome. [electronic resource] - Kidney international Mar 2010 - 443-9 p. digital
Publication Type: Journal Article
1523-1755
10.1038/ki.2009.435 doi
Amino Acid Substitution
Arginine--metabolism
Child
Child, Preschool
Cohort Studies
Genotype
Heterozygote
Homozygote
Humans
Hyperoxaluria, Primary--diagnosis
Infant
Kidney Failure, Chronic--genetics
Mutation
Phenotype
Prognosis
Retrospective Studies
Transaminases--genetics