Co-inheritance of a PKD1 mutation and homozygous PKD2 variant: A potential modifier in autosomal dominant polycystic kidney disease

European Journal of Clinical Investigation

Volumn 38, Issue 3, 2008, Pages 180-190

  Dedoussis, G V Z ^a   Luo, Y ^b   Starremans, P ^b   Rossetti, S ^c   Ramos, A J ^d   Cantiello, H F ^d   Katsareli, E ^a   Ziroyannis, P ^e   Lamnissou, K ^f   Harris, P C ^c   Zhou, J ^b  

^a HAROKOPIO UNIVERSITY   (Greece)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c MAYO CLINIC   (United States)

^d Cancer Center   (United States)

^e KAT HOSPITAL   (Greece)

^f UNIVERSITY OF ATHENS   (Greece)

Author keywords

Channel activity; Mutation; PKD; Polycystins

Indexed keywords

CYSTEINE; NUCLEOTIDE; PHENYLALANINE; POLYCYSTIN 1; POLYCYSTIN 2;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CAUCASIAN; CHROMOSOME; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; CYTOPLASM; ENDOPLASMIC RETICULUM; EXON; GEL ELECTROPHORESIS; GENE DELETION; GENE EXPRESSION; GENE FUNCTION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC TRANSCRIPTION; GENETIC TRANSFECTION; GENETIC VARIABILITY; GREECE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; KIDNEY CELL; KIDNEY POLYCYSTIC DISEASE; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PARENT; PATCH CLAMP; PATHOGENESIS; PATHOGENICITY; PERIPHERAL BLOOD MONONUCLEAR CELL; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SKIN BIOPSY; WESTERN BLOTTING; WILD TYPE;

ANIMALS; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS; FEMALE; HOMOZYGOTE; HUMANS; MALE; MICE; MUTATION; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; POLYMERASE CHAIN REACTION; PROTEINS; TRPP CATION CHANNELS;

EID: 38849194110     PISSN: 00142972     EISSN: 13652362     Source Type: Journal    
DOI: 10.1111/j.1365-2362.2007.01913.x     Document Type: Article

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