Gross Genomic Rearrangement Involving the TSC2-PKD1 Contiguous Deletion Syndrome: Characterization of the Deletion Event by Quantitative Polymerase Chain Reaction Deletion Assay

American Journal of Kidney Diseases

Volumn 49, Issue 1, 2007, Pages

  Boehm, Detlef ^a   Bacher, Janina ^a   Neumann, Hartmut P H ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

Author keywords

polycystic kidney disease (PKD); quantitative real time polymerase chain reaction; simple tandem repeat; TSC2 PKD1 contiguous gene deletion syndrome; Tuberous sclerosis complex

Indexed keywords

PROTEIN RAB26; PROTEIN TRAF7; RAB PROTEIN; TUBERIN; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED FACTOR;

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 16P; CHYLOUS ASCITES; CLINICAL FEATURE; CONTIGUOUS DELETION SYNDROME; FEMALE; GENE; GENE DELETION; GENE IDENTIFICATION; GENE LOCATION; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC DISORDER; GENETIC RECOMBINATION; HEMIZYGOSITY; HEMODIALYSIS; HISTOPATHOLOGY; HUMAN; KIDNEY FAILURE; KIDNEY POLYCYSTIC DISEASE; LEIOMYOMA; NUCLEOTIDE SEQUENCE; PKD1 GENE; PLEURA EFFUSION; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY; TANDEM REPEAT; TSC2 GENE; TUBEROUS SCLEROSIS;

ADULT; FEMALE; GENE DELETION; GENE REARRANGEMENT; HUMANS; POLYMERASE CHAIN REACTION; SYNDROME; TRPP CATION CHANNELS; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 33845480303     PISSN: 02726386     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.ajkd.2006.10.024     Document Type: Article

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