Novel factor H mutation associated with familial membranoproliferative glomerulonephritis type I

Pediatric Nephrology

Volumn 30, Issue 12, 2015, Pages 2129-2134

  Alfandary, Hadas ^a   Davidovits, Miriam ^a,b  

^a Schneider Children's Medical Center Israel   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

Author keywords

Complement dysregulation; Factor H deficiency; Factor H mutation; Familial glomerulonephritis; Membranoproliferative glomerulonephritis

Indexed keywords

ALBUMIN; COMPLEMENT COMPONENT C1Q; COMPLEMENT COMPONENT C3; COMPLEMENT COMPONENT C4; COMPLEMENT COMPONENT C5B; COMPLEMENT FACTOR H; CREATININE; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; DIURETIC AGENT; IMMUNOGLOBULIN M; STEROID; COMPLEMENT FACTOR H, HUMAN; COMPLEMENT MEMBRANE ATTACK COMPLEX;

ADOLESCENT; AMINO ACID SUBSTITUTION; ANEMIA; ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; CREATININE BLOOD LEVEL; CREATININE CLEARANCE; DISEASE ASSOCIATION; DRUG TREATMENT FAILURE; EXON; FAMILIAL DISEASE; FAMILIAL MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS TYPE 1; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC ANALYSIS; HEMATURIA; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; KIDNEY BIOPSY; MALE; MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS; MISSENSE MUTATION; PLASMA TRANSFUSION; PRIORITY JOURNAL; PROTEINURIA; QUANTITATIVE ANALYSIS; SCHOOL CHILD; STEROID THERAPY; TREATMENT DURATION; BLOOD; ENZYME LINKED IMMUNOSORBENT ASSAY; GENETIC PREDISPOSITION; GENETICS; GLOMERULONEPHRITIS, MEMBRANOPROLIFERATIVE; METABOLISM; PEDIGREE;

ADOLESCENT; CHILD; COMPLEMENT FACTOR H; COMPLEMENT MEMBRANE ATTACK COMPLEX; ENZYME-LINKED IMMUNOSORBENT ASSAY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GLOMERULONEPHRITIS, MEMBRANOPROLIFERATIVE; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE;

EID: 84945451255     PISSN: 0931041X     EISSN: 1432198X     Source Type: Journal    
DOI: 10.1007/s00467-015-3166-7     Document Type: Article

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