The Uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect

Kidney International

Volumn 71, Issue 6, 2007, Pages 574-581

  Wolf, M T F ^a,b   Beck, B B ^a   Zaucke, F ^b   Kunze, A ^b   Misselwitz, J ^c   Ruley, J ^d   Ronda, T ^a   Fischer, A ^e   Eifinger, F ^a   Licht, C ^a   Otto, E ^f   Hoppe, B ^a   Hildebrandt, F ^f,g  

^a UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^b UNIVERSITY OF COLOGNE   (Germany)

^c JENA UNIVERSITY HOSPITAL   (Germany)

^d Department of Pediatric Nephrology   (United States)

^e University of Michigan ^*  (Switzerland)

^f UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^g UNIVERSITY OF MICHIGAN   (United States)

Author keywords

FJHN; MCKD2; Tamm Horsfall protein; Uromodulin

Indexed keywords

CYSTEINE; TAMM HORSFALL GLYCOPROTEIN;

ADULT; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BLOOD SAMPLING; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EUROPE; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; HYPERTENSION; HYPERURICEMIA; KIDNEY CONCENTRATING CAPACITY; KIDNEY HYPOPLASIA; LESCH NYHAN SYNDROME; MALE; MOUSE; NONHUMAN; ONSET AGE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TURKEY (REPUBLIC); URIC ACID NEPHROPATHY; URINARY TRACT INFECTION; VESICOURETERAL REFLUX;

ADOLESCENT; ADULT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; CYSTINE; DNA MUTATIONAL ANALYSIS; EUROPE; EXONS; FEMALE; GLYCINE; HAPLOTYPES; HUMANS; HYPERURICEMIA; KIDNEY DISEASES; MALE; MIDDLE AGED; MUCOPROTEINS; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; TURKEY;

EID: 33947128725     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/sj.ki.5002089     Document Type: Article

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