Article
Hereditary renal amyloidosis caused by a new variant lysozyme W64R in a French family.
Kidney international - 1 Mar 2002
Valleix Sophie, Drunat Séverine, Philit Jean-Baptiste, Adoue Daniel, Piette Jean-Charles, Droz Dominique, MacGregor Brigitte, Canet Denis, Delpech Marc, Grateau Gilles
Abstract excerpt
BACKGROUND: The number of proteins with mutations resulting in amyloidosis has continued to increase. Five proteins--transthyretin, fibrinogen alpha-A chain, apolipoprotein AI, lysozyme, apolipoprotein AII, cystatin C and gelsolin--can be associated with hereditary amyloidosis involving the kidney. METHODS: A French family with a history of autosomal dominant hereditary amyloidosis with early sicca syndrome and...
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