The major allele of the alanine:glyoxylate aminotransferase gene: Nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1

Molecular Genetics and Metabolism

Volumn 86, Issue 1-2, 2005, Pages 172-178

  Coulter Mackie, Marion B ^a,b   Lian, Qun ^a   Applegarth, Derek ^a   Toone, Jennifer ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b CHILDREN S AND WOMEN S HEALTH CENTRE OF BRITISH COLUMBIA   (Canada)

Author keywords

AGT; AGXT; Alanine:glyoxylate aminotransferase; Hyperoxaluria; Mutation; Oxalosis; PH1

Indexed keywords

ADENINE NUCLEOTIDE; ALANINE GLYOXYLATE AMINOTRANSFERASE; ALPHA AMINO ACID; GUANINE NUCLEOTIDE; PEROXISOMAL ENZYME ALANINE; PYRIMIDINE NUCLEOTIDE; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONTROLLED STUDY; DISORDERS OF PEROXISOMAL FUNCTIONS; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRON; LIVER; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; OXALOSIS 1; PRIORITY JOURNAL;

ALLELES; BASE SEQUENCE; DNA PRIMERS; HUMANS; HYPEROXALURIA, PRIMARY; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; POLYMORPHISM, GENETIC; TRANSAMINASES;

EID: 26244433171     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.05.005     Document Type: Article

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