The new apolipoprotein A-I variant leu(174) --> Ser causes hereditary cardiac amyloidosis, and the amyloid fibrils are constituted by the 93-residue N-terminal polypeptide. [electronic resource]
- The American journal of pathology Sep 1999
- 695-702 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
0002-9440
10.1016/S0002-9440(10)65167-X doi
Amino Acid Substitution Amyloid--chemistry Amyloidosis--complications Apolipoprotein A-I--chemistry Chromatography, Gel Heart Diseases--etiology Humans Male Mass Spectrometry Middle Aged Models, Molecular Molecular Weight Myocardium--chemistry Peptide Fragments--chemistry Point Mutation--genetics Polymerase Chain Reaction Sequence Analysis, DNA