Incomplete penetrance of CD46 mutation causing familial atypical hemolytic uremic syndrome

Pediatric Nephrology

Volumn 30, Issue 12, 2015, Pages 2215-2220

  Bhatia, Divya ^a   Khandelwal, Priyanka ^a   Sinha, Aditi ^a   Hari, Pankaj ^a   Cheong, Hae Il ^b,c,d   Bagga, Arvind ^a  

^a ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

^b Seoul National University Children's Hospital   (South Korea)

^c Seoul National University Hospital   (South Korea)

^d Seoul National University College of Medicine   (South Korea)

Author keywords

Atypical hemolytic uremic syndrome; Dengue; Membrane cofactor protein

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; CREATININE; IMMUNOGLOBULIN M ANTIBODY; INOTROPIC AGENT; LACTATE DEHYDROGENASE; MEMBRANE COFACTOR PROTEIN; CD46 PROTEIN, HUMAN;

ACUTE KIDNEY FAILURE; ACUTE KIDNEY TUBULE NECROSIS; ANASARCA; ARTICLE; ARTIFICIAL VENTILATION; ASYMPTOMATIC DISEASE; CASE REPORT; CELL SURFACE; CHILD; CLINICAL FEATURE; CREATININE BLOOD LEVEL; DENGUE; ERYTHROCYTE; ERYTHROCYTE CONCENTRATE; FAMILIAL DISEASE; FEMALE; FEVER; FLOW CYTOMETRY; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; HEMATURIA; HEMOLYTIC UREMIC SYNDROME; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPERTENSION; INTERNATIONAL NORMALIZED RATIO; KIDNEY BIOPSY; MALE; MEDICAL HISTORY; MELENA; OLIGURIA; PALLOR; PARENT; PENETRANCE; PERITONEAL DIALYSIS; PETECHIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEINURIA; PROTHROMBIN TIME; REGENERATION; SCHOOL CHILD; SEROLOGY; SIBLING; SMEAR; THROMBOCYTE COUNT; THROMBOTIC THROMBOCYTOPENIC PURPURA; URINALYSIS; URINE VOLUME; DNA SEQUENCE; GENETICS; MUTATION;

ANTIGENS, CD46; ATYPICAL HEMOLYTIC UREMIC SYNDROME; CHILD; CHILD, PRESCHOOL; FEMALE; FLOW CYTOMETRY; HUMANS; MALE; MUTATION; PENETRANCE; SEQUENCE ANALYSIS, DNA; SIBLINGS;

EID: 84945489822     PISSN: 0931041X     EISSN: 1432198X     Source Type: Journal    
DOI: 10.1007/s00467-015-3189-0     Document Type: Article

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