Novel frameshift mutation in a heterozygous woman with fabry disease and end-stage renal failure

American Journal of Nephrology

Volumn 16, Issue 4, 1996, Pages 352-357

  Van Loo, Ann ^a   Vanholder, Raymond ^a   Madsen, Kirsten ^b   Praet, Marleen ^a   Kint, Jos ^a   De Paepe, Ann ^a   Messiaen, Ludwine ^a   Lameire, Norbert ^a   Hasholt, Lis ^b   Sørensen, Sven A ^b   Ringoir, Severin ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

Alpha galactosidase; Angiokeratoma corporis diffusum; DNA sequencing; Electron microscopy; End stage renal failure; Fabry disease; Frameshift mutation; Transplantation

Indexed keywords

ALPHA GALACTOSIDASE; GLYCOSPHINGOLIPID;

ADULT; ARTICLE; CASE REPORT; CELL ULTRASTRUCTURE; DNA SEQUENCE; ELECTRON MICROSCOPY; ENZYME ACTIVITY; ENZYME DEFECT; FABRY DISEASE; FEMALE; FOCAL GLOMERULOSCLEROSIS; FRAMESHIFT MUTATION; HEMODIALYSIS; HETEROZYGOTE; HUMAN; HUMAN TISSUE; KIDNEY BIOPSY; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; MALE; PRIORITY JOURNAL;

ADULT; ALPHA-GALACTOSIDASE; BASE SEQUENCE; FABRY DISEASE; FEMALE; FRAMESHIFT MUTATION; GLYCOSPHINGOLIPIDS; HETEROZYGOTE; HUMANS; KIDNEY; KIDNEY FAILURE, CHRONIC; KIDNEY TRANSPLANTATION; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA;

EID: 9244220588     PISSN: 02508095     EISSN: 14219670     Source Type: Journal    
DOI: 10.1159/000169023     Document Type: Article

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