1.
Hum Mutat
; 13(5): 412, 1999.
Article
in English
| MEDLINE
| ID: mdl-10338098
ABSTRACT
The LDL-receptor gene point mutation FH-Genoa/Palermo is the most frequent mutation responsible for Familial Hypercholesterolemia in Sicily. The mutation does not introduce or abolish any useful restriction site. We establish a GeneComb-based strategy to identify this mutation in a population of Sicilian unrelated clinically diagnosed FH probands. The method was very sensitive and specific; 12 out of 90 (13.3%) unrelated FH probands were found to carry the FH-Genoa/Palermo mutation. According to these results, the FH-Genoa/Palermo is the more frequent LDL-receptor gene mutation among the Sicilian FH patients. Moreover FH-Genoa/Palermo is the mutation cluster to date more represented in Southern Italy.
Subject(s)
Genetic Testing , Hyperlipoproteinemia Type II/genetics , Point Mutation , Receptors, LDL/genetics , Humans
2.
J Abnorm Psychol
; 84(2): 138-43, 1975 Apr.
Article
in English
| MEDLINE
| ID: mdl-1123477