Article
Apolipoprotein A1 Baltimore (Arg10----Leu), a new ApoA1 variant.
Human genetics - 1 Apr 1990
Ladias J A, Kwiterovich P O, Smith H H, Karathanasis S K, Antonarakis S E
Abstract excerpt
A new apolipoprotein A1 (APOA1) gene variant has been identified in a family ascertained through a proband undergoing coronary angiography. The variant, ApoA1 Baltimore, was due to a mutation at codon 34 of the third exon of the APOA1 gene (CGA to CTA) that resulted in an arginine-to-leucine substitution at the tenth amino acid of the mature ApoA1 and a change in charge of -1. The mutation abolishes a TaqI...
Topics
- Adolescent
- Adult
- Amino Acid Sequence
- Apolipoprotein A-I
- Apolipoproteins A
- Base Sequence
- Child
- Deoxyribonucleases, Type II Site-Specific
- Electrophoresis, Gel, Two-Dimensional
- Female
- Humans