PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease

Nephrology Dialysis Transplantation

Volumn 19, Issue 5, 2004, Pages 1116-1122

  Štekrová, Jitka ^a,c   Reiterová, Jana ^a   Merta, Miroslav ^a   Damborský, Jirt ^b   Židovská, Jana ^a   Kebrdlová, Vera ^a   Kohoutová, Milada ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

^b MASARYK UNIVERSITY   (Czech Republic)

^c CHARLES UNIVERSITY   (Czech Republic)

Author keywords

Autosomal dominant polycystic kidney disease; Germline mutations; Heteroduplex analysis; PKD2 gene

Indexed keywords

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL FEATURE; CONTROLLED STUDY; CZECH REPUBLIC; EXON; FAMILY; FEMALE; FRAMESHIFT MUTATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENERAL HOSPITAL; GENETIC CODE; GENETIC LINKAGE; HEMODIALYSIS; HETERODUPLEX ANALYSIS; HUMAN; KIDNEY FAILURE; KIDNEY POLYCYSTIC DISEASE; KIDNEY TRANSPLANTATION; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NEPHROLOGY; NONSENSE MUTATION; POPULATION RESEARCH; PREVALENCE; PRIORITY JOURNAL; SCREENING TEST;

AGE OF ONSET; AMINO ACID SUBSTITUTION; CODON; CZECH REPUBLIC; EXONS; FEMALE; FRAMESHIFT MUTATION; HUMANS; KIDNEY FAILURE, CHRONIC; MALE; MEMBRANE PROTEINS; MODELS, MOLECULAR; MUTATION; MUTATION, MISSENSE; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; PROTEIN CONFORMATION; TRPP CATION CHANNELS;

EID: 2442555975     PISSN: 09310509     EISSN: None     Source Type: Journal    
DOI: 10.1093/ndt/gfh083     Document Type: Article

References (19)

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