A novel lysozyme mutation Phe57Ile associated with hereditary renal amyloidosis
- 1 May 2003
- journal article
- case report
- Published by Elsevier in Kidney International
- Vol. 63 (5) , 1652-1657
- https://doi.org/10.1046/j.1523-1755.2003.00904.x
Abstract
No abstract availableKeywords
This publication has 17 references indexed in Scilit:
- Hereditary renal amyloidosis caused by a new variant lysozyme W64R in a French familyKidney International, 2002
- Renal amyloidosis caused by a novel stop-codon mutation in the apolipoprotein A-II geneKidney International, 2001
- Trans -Suppression of Misfolding in an Amyloid DiseaseScience, 2001
- A Novel Compound Heterozygote (FAP ATTR Arg104His/ATTR Val30Met) with High Serum Transthyretin (TTR) and Retinol Binding Protein (RBP) LevelsBiochemical and Biophysical Research Communications, 1999
- Mechanistic Studies of the Folding of Human Lysozyme and the Origin of Amyloidogenic Behavior in Its Disease-Related VariantsBiochemistry, 1999
- Instability, unfolding and aggregation of human lysozyme variants underlying amyloid fibrillogenesisNature, 1997
- Discordant symptoms in monozygotic twins with familial amyloidotic polyneuropathy (FAP) (TTR Met 30)Amyloid, 1997
- 'Fragile' liver and massive hepatic haemorrhage due to hereditary amyloidosis.Gut, 1996
- Hereditary renal amyloidosis associated with a mutant fibrinogen α–chainNature Genetics, 1993
- Variant apolipoprotein AI as a major constituent of a human hereditary amyloidBiochemical and Biophysical Research Communications, 1988