Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia.
Arterioscler Thromb Vasc Biol
; 19(2): 408-18, 1999 Feb.
Article
en En
| MEDLINE
| ID: mdl-9974426
The aim of this study was the characterization of mutations of the LDL receptor gene in 39 Italian patients with homozygous familial hypercholesterolemia, who were examined during the period 1994 to 1996. The age of the patients ranged from 1 to 64 years; one third of them were older than 30. Plasma LDL cholesterol level ranged from 10.8 to 25.1 mmol/L. The residual LDL receptor activity, measured in cultured fibroblasts of 32 patients, varied from <2% to 30% of normal and was inversely correlated with the plasma LDL cholesterol level (r=-0.665; P<0.003). The most severe coronary atherosclerosis was observed in those patients with the lowest residual LDL receptor activity (
Asunto(s)
Buscar en Google
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Receptores de LDL
/
Homocigoto
/
Hiperlipoproteinemia Tipo II
/
Mutación
Límite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Middle aged
País/Región como asunto:
Europa
Idioma:
En
Revista:
Arterioscler Thromb Vasc Biol
Asunto de la revista:
ANGIOLOGIA
Año:
1999
Tipo del documento:
Article
País de afiliación:
Italia
Pais de publicación:
Estados Unidos
Buscar en Google
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Receptores de LDL
/
Homocigoto
/
Hiperlipoproteinemia Tipo II
/
Mutación
Límite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Middle aged
País/Región como asunto:
Europa
Idioma:
En
Revista:
Arterioscler Thromb Vasc Biol
Asunto de la revista:
ANGIOLOGIA
Año:
1999
Tipo del documento:
Article
País de afiliación:
Italia
Pais de publicación:
Estados Unidos