Article
Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis.
Proceedings of the National Academy of Sciences of the United States of America - 15 Aug 1992
Soutar A K, Hawkins P N, Vigushin D M, Tennent G A, Booth S E, Hutton T, Nguyen O, Totty N F, Feest T G, Hsuan J J
Abstract excerpt
A mutation in the gene for apolipoprotein AI (apoAI) was identified in an English family with autosomal dominant non-neuropathic systemic amyloidosis. The plasma of all affected individuals contained a variant apoAI with one additional charge, as well as normal apoAI. The propositus was heterozygous; the coding region of his apoAI gene contained both the normal sequence and a single-base substitution changing the...
Topics
- Amino Acid Sequence
- Amyloid
- Amyloidosis
- Apolipoprotein A-I
- Arginine
- Base Sequence
- DNA
- Female
- Genes, Dominant
- Humans
- Macromolecular Substances