Novel compound heterozygote mutations (H234Q/R1206X) of the ADAMTS13 gene in an adult patient with Upshaw-Schulman syndrome showing predominant episodes of repeated acute renal failure

Nephrology Dialysis Transplantation

Volumn 21, Issue 5, 2006, Pages 1289-1292

  Shibagaki, Yugo ^a,d   Matsumoto, Masanori ^b   Kokame, Koichi ^c   Ohba, Shigeyoshi ^a   Miyata, Toshiyuki ^c   Fujimura, Yoshihiro ^b   Fujita, Toshiro ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b NARA MEDICAL UNIVERSITY   (Japan)

^c NATIONAL CEREBRAL AND CARDIOVASCULAR CENTER   (Japan)

^d NONE   (Japan)

Author keywords

Acute renal failure; Genetic disorder; Haemolytic uraemic syndrome; Thrombotic microangiopathy; Von Willebrand factor

Indexed keywords

ADENINE; CYTOSINE; DNA; ENZYME INHIBITOR; THYMINE; UNCLASSIFIED DRUG; VON WILLEBRAND FACTOR CLEAVING PROTEINASE; VON WILLEBRAND FACTOR CLEAVING PROTEINASE INHIBITOR;

ACUTE KIDNEY FAILURE; ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME DEFICIENCY; ENZYME INHIBITION; EXON; GENETIC ANALYSIS; HAPLOTYPE; HETEROZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PEDIGREE ANALYSIS; PRIORITY JOURNAL; THROMBOCYTOPENIA; THROMBOTIC THROMBOCYTOPENIC PURPURA; UPSHAW SCHULMAN SYNDROME;

ADAM PROTEINS; ADULT; DISEASE PROGRESSION; FOLLOW-UP STUDIES; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION TO DISEASE; HEMOLYTIC-UREMIC SYNDROME; HETEROZYGOTE DETECTION; HUMANS; KIDNEY FAILURE, ACUTE; MALE; MUTATION, MISSENSE; PEDIGREE; PURPURA, THROMBOTIC THROMBOCYTOPENIC; RECURRENCE;

EID: 33646190564     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfk072     Document Type: Article

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