Autosomal dominant polycystic kidney disease caused by somatic and germline mosaicism

Clinical Genetics

Volumn 87, Issue 4, 2015, Pages 373-377

  Tan, A Y ^a   Blumenfeld, J ^b,c   Michaeel, A ^a   Donahue, S ^c   Bobb, W ^c   Parker, T ^b,c   Levine, D ^b,c   Rennert, H ^a  

^a Department of Pathology and Laboratory Medicine ^*  (United States)

^b WEILL CORNELL MEDICAL COLLEGE   (United States)

^c ROGOSIN INSTITUTE   (United States)

Author keywords

ADPKD; Germline mosaicism; PKD1 gene; Somatic mosaicism; Truncation mutation

Indexed keywords

AMINO ACID; ANTIHYPERTENSIVE AGENT; ANTILIPEMIC AGENT; CREATININE; DNA; POLYCYSTIN 1; UREA; POLYCYSTIC KIDNEY DISEASE 1 PROTEIN; POLYCYSTIN;

ADULT; AMINO ACID BLOOD LEVEL; ARTICLE; CASE REPORT; CHEEK CELL; CODON; COMPUTER ASSISTED TOMOGRAPHY; CREATININE BLOOD LEVEL; EMBRYO DEVELOPMENT; FEMALE; GENE INSERTION; GERMLINE MUTATION; GLOMERULUS FILTRATION RATE; HEMATURIA; HUMAN; HUMAN CELL; HYPERLIPIDEMIA; HYPERTENSION; INCIDENTAL FINDING; KIDNEY HYPERTROPHY; KIDNEY POLYCYSTIC DISEASE; LEG PAIN; LIVER CYST; MALE; MOSAICISM; NEXT GENERATION SEQUENCING; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIPHERAL LYMPHOCYTE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SOMATIC MUTATION; SPERM; UREA NITROGEN BLOOD LEVEL; URINE SEDIMENT; UROLITHIASIS; YOUNG ADULT; BIOLOGY; DOMINANT GENE; GENETICS; HIGH THROUGHPUT SEQUENCING; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; RADIOGRAPHY;

ADULT; BASE SEQUENCE; COMPUTATIONAL BIOLOGY; FEMALE; GENES, DOMINANT; GERM-LINE MUTATION; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MOLECULAR SEQUENCE DATA; MOSAICISM; POLYCYSTIC KIDNEY DISEASES; TRPP CATION CHANNELS; YOUNG ADULT;

EID: 84925233933     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12383     Document Type: Article

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