Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD

American Journal of Kidney Diseases

Volumn 58, Issue 5, 2011, Pages 821-825

  Beck, Bodo B ^a   Trachtman, Howard ^b   Gitman, Michael ^b   Miller, Ilene ^b   Sayer, John A ^c   Pannes, Andrea ^a   Baasner, Anne ^a   Hildebrandt, Friedhelm ^d   Wolf, Matthias T F ^e,f  

^a UNIVERSITY OF COLOGNE   (Germany)

^b Northwell Health   (United States)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d UNIVERSITY OF MICHIGAN   (United States)

^e UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^f UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

chronic kidney disease; erythropoiesis; Renin; uromodulin associated kidney disease

Indexed keywords

ARGININE; COMPLEMENTARY DNA; CYTOSINE; HEPATOCYTE NUCLEAR FACTOR 1BETA; RENIN; SIGNAL PEPTIDE; TAMM HORSFALL GLYCOPROTEIN; THYMIDINE; TRYPTOPHAN;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANEMIA; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHRONIC KIDNEY DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; EXON; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; HETEROZYGOTE; HUMAN; HYPERURICEMIA; KIDNEY FUNCTION; MALE;

ADOLESCENT; ADULT; ANEMIA; CHILD; CHILD, PRESCHOOL; CHRONIC DISEASE; FEMALE; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HUMANS; HYPERURICEMIA; INFANT; KIDNEY DISEASES; MALE; MUTATION; PEDIGREE; RENIN; UROMODULIN;

EID: 80054971404     PISSN: 02726386     EISSN: 15236838     Source Type: Journal    
DOI: 10.1053/j.ajkd.2011.06.029     Document Type: Article

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