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• W2124015145 abstract "A man with hereditary non-neuropathic systemic amyloidosis had amyloid fibril protein subunits consisting of N-terminal fragments (residues 1-86, 1-92 and 1-93) of a previously unknown variant of apolipoprotein Al, Trp50Arg, encoded by a thymine-cytosine transition. This is the third reported amyloidogenic apoAl variant. All involve substitutions of single neutral amino acids by the cationic residue arginine, suggesting a common mechanism of amyloidogenesis. However, the phenotypic expression of these mutations varies both within and between the seven known families with hereditary apoAl amyloidosis. These findings should facilitate analysis of the molecular basis of fibrillogenesis and of factors that modulate amyloid deposition and its consequences in vivo." @default.
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• W2124015145 date "1995-10-01" @default.
• W2124015145 modified "2023-09-26" @default.
• W2124015145 title "A new apolipoprotein Al variant, Trp50Arg, causes hereditary amyloidosis" @default.
• W2124015145 doi "https://doi.org/10.1093/oxfordjournals.qjmed.a068993" @default.
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