Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type

Kidney International

Volumn 86, Issue 6, 2014, Pages 1197-1204

  Mandrile, Giorgia ^a,b   Van Woerden, Christiaan S ^c   Berchialla, Paola ^b   Beck, Bodo B ^d   Acquaviva Bourdain, Cécile ^e   Hulton, Sally Anne ^f   Rumsby, Gill ^g  

^a UNIVERSITY OF TURIN   (Italy)

^b UNIVERSITY OF TURIN   (Italy)

^c EMMA CHILDREN S HOSPITAL   (Netherlands)

^d UNIVERSITY OF COLOGNE   (Germany)

^e HOSPICES CIVILS DE LYON   (France)

^f BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^g UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

Author keywords

AGXT; Genotype phenotype correlations; Primary hyperoxaluria type 1; Urolithiasis

Indexed keywords

ALANINE GLYOXYLATE AMINOTRANSFERASE; ARGININE; ASPARTIC ACID; CYSTEINE; GLUTAMINE; ISOLEUCINE; LEUCINE; METHIONINE; PHENYLALANINE; PYRIDOXINE; SERINE; THREONINE; ALANINE-GLYOXYLATE TRANSAMINASE; AMINOTRANSFERASE; STOP CODON;

ADOLESCENT; ADULT; AGE DISTRIBUTION; AGXT GENE; AMINO ACID SUBSTITUTION; ARTICLE; CAUSAL ATTRIBUTION; CHILD; CORRELATIONAL STUDY; DATA ANALYSIS; DISEASE COURSE; DRUG RESPONSE; DRUG SENSITIVITY; END STAGE RENAL DISEASE; EUROPE; FEMALE; GENE TARGETING; GENETIC CORRELATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; KIDNEY CALCIFICATION; LIVER BIOPSY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NULL ALLELE; ONSET AGE; OUTCOME ASSESSMENT; OXALOSIS 1; POPULATION RESEARCH; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SEX DIFFERENCE; SURVIVAL RATE; SYMPTOMATOLOGY; UROLITHIASIS; COMPLICATION; DELAYED DIAGNOSIS; FRAMESHIFT MUTATION; GENETICS; HETEROZYGOTE; HOMOZYGOTE; HYPEROXALURIA, PRIMARY; INFANT; KIDNEY FAILURE, CHRONIC; MIDDLE AGED; MUTATION; PHENOTYPE; PRESCHOOL CHILD; STOP CODON; YOUNG ADULT;

ADOLESCENT; ADULT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; DELAYED DIAGNOSIS; EUROPE; FEMALE; FRAMESHIFT MUTATION; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HYPEROXALURIA, PRIMARY; INFANT; KIDNEY FAILURE, CHRONIC; MALE; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; PHENOTYPE; RETROSPECTIVE STUDIES; SURVIVAL RATE; TRANSAMINASES; UROLITHIASIS; YOUNG ADULT;

EID: 84926225433     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/ki.2014.222     Document Type: Article

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