Article
Hereditary renal amyloidosis associated with variant lysozyme in a large English family.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Nov 1999
Gillmore J D, Booth D R, Madhoo S, Pepys M B, Hawkins P N
Abstract excerpt
BACKGROUND: Two kindreds with hereditary systemic amyloidosis caused by the first two mutations to be described in the human lysozyme gene were discovered recently and study of the variant lysozyme has been powerfully informative about mechanisms of amyloid fibrillogenesis. However, the clinical manifestations in these families, additional members of which have lately been identified, have not previously been...
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