Genotype-phenotype correlation in primary hyperoxaluria type 1: The p.Gly170Arg AGXT mutation is associated with a better outcome

Kidney International

Volumn 77, Issue 5, 2010, Pages 443-449

  Harambat, Jérme ^a,b   Fargue, Sonia ^b   Acquaviva, Cécile ^b   Gagnadoux, Marie France ^c   Janssen, Françoise ^d   Liutkus, Aurélia ^b   Mourani, Chebl ^e   MacHer, Marie Alice ^f   Abramowicz, Daniel ^g   Legendre, Christophe ^c   Durrbach, Antoine ^h   Tsimaratos, Michel ⁱ   Nivet, Hubert ^j   Girardin, Eric ^k   Schott, Anne Marie ^b   Rolland, Marie Odile ^b   Cochat, Pierre ^b  

^a BORDEAUX UNIVERSITY HOSPITAL   (France)

^b HOSPICES CIVILS DE LYON   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d Reine Fabiola Hospital   (Belgium)

^e SAINT JOSEPH UNIVERSITY   (Lebanon)

^f HÔPITAL ROBERT DEBRÉ   (France)

^g ERASME HOSPITAL   (Belgium)

^h BICÊTRE HOSPITAL   (France)

ⁱ TIMONE HOSPITAL   (France)

^j Centre de Pediatrie Clocheville   (France)

^k Hopital des Enfants Hopitaux universitaires de Geneve   (Switzerland)

more..

Author keywords

End stage renal disease; Genetic renal disease; Genotype phenotype correlation; Kidney stones; Primary hyperoxaluria type 1

Indexed keywords

ALANINE GLYOXYLATE AMINOTRANSFERASE;

ADULT; AGTX GENE; ARTICLE; DNA DETERMINATION; EARLY DIAGNOSIS; ENZYME ACTIVITY; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; KIDNEY CALCIFICATION; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; LIVER TRANSPLANTATION; MAJOR CLINICAL STUDY; MIDDLE EAST; NORTH AFRICA; NUCLEOTIDE SEQUENCE; OXALOSIS 1; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; RECURRENT DISEASE; SYMPTOM; UROLITHIASIS; WESTERN EUROPE;

AMINO ACID SUBSTITUTION; ARGININE; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HYPEROXALURIA, PRIMARY; INFANT; KIDNEY FAILURE, CHRONIC; MUTATION; PHENOTYPE; PROGNOSIS; RETROSPECTIVE STUDIES; TRANSAMINASES;

EID: 76749170712     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/ki.2009.435     Document Type: Article

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