A novel apolipoprotein A-1 variant, Arg173Pro, associated with cardiac and cutaneous amyloidosis.

@article{Asl1999ANA,
  title={A novel apolipoprotein A-1 variant, Arg173Pro, associated with cardiac and cutaneous amyloidosis.},
  author={Kamran Hamidi Asl and Juris J. Liepnieks and Machiko Nakamura and Fabrice Parker and Merrill D L Benson},
  journal={Biochemical and biophysical research communications},
  year={1999},
  volume={257 2},
  pages={584-8}
}
An American kindred was found to have hereditary amyloidosis with cutaneous and cardiac involvement. Characterization of fibrils isolated from skin identified the amyloid protein as the N-terminal 90 to 100 residues of apolipoprotein A-1. Sequence of the apolipoprotein A-1 gene was normal except for a G/C transversion at position 1638 which predicts an Arg to Pro substitution at residue 173. This mutation, unlike previously described amyloidogenic mutations is not in the N-terminal fragment… CONTINUE READING

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