Article
A new apolipoprotein Al variant, Trp50Arg, causes hereditary amyloidosis.
QJM : monthly journal of the Association of Physicians - 1 Oct 1995
Booth D R, Tan S Y, Booth S E, Hsuan J J, Totty N F, Nguyen O, Hutton T, Vigushin D M, Tennent G A, Hutchinson W L
Abstract excerpt
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,...
Topics
- Amino Acid Sequence
- Amyloid
- Amyloidosis
- Apolipoprotein A-I
- Electrophoresis, Polyacrylamide Gel
- Genetic Variation
- Humans
- Intestinal Diseases
- Liver Diseases
- Male
- Middle Aged