Article
A new case of apo C-II deficiency with a nonsense mutation in the apo C-II gene.
Clinica chimica acta; international journal of clinical chemistry - 31 Jan 1994
Zanelli T, Catapano A L, Averna M R, Barbagallo C M, Liotta A, Giardina F C, Notarbartolo A
Abstract excerpt
The apo C-II gene from a patient with apo C-II deficiency has been sequenced after amplification by the polymerase chain reaction (PCR). The sequence analysis revealed a substitution of adenosine for cytosine at position 3,002 in exon 3, leading to the introduction of a premature stop codon (TAA) at a position corresponding to aminoacid 37 of mature apo C-II. This mutation creates a new Rsa I restriction enzyme...
Topics
- Apolipoprotein C-II
- Apolipoproteins C
- Base Sequence
- Child, Preschool
- Cholesterol
- Exons
- Humans
- Hyperlipoproteinemia Type II
- Isoelectric Focusing
- Lipoprotein Lipase
- Male