Article
Identification of the mutation responsible for a case of plasmatic apolipoprotein CII deficiency (Apo CII-Bari).
Biochemical and biophysical research communications - 16 May 1990
Crecchio C, Capurso A, Pepe G
Abstract excerpt
We studied a case of familial Apolipoprotein CII deficiency. By Southern hybridization, amplification and sequence analysis, the genetic defect was identified. It consists in a point mutation C- greater than G in the third exon of the gene causing a premature stop codon. Truncated at the aa. 36 o...
Topics
- Amino Acid Sequence
- Apolipoprotein C-II
- Apolipoproteins C
- Base Sequence
- Blotting, Southern
- DNA Mutational Analysis
- Exons
- Female
- Gene Amplification
- Humans
- Isoelectric Focusing
- Molecular Sequence Data
- Mutation
- Nucleic Acid Hybridization
- Polymorphism, Restriction Fragment Length