| Autor: |
K L, Khoo, P, Van Acker, H, Tan, J P, Deslypere |
| Rok vydání: |
2001 |
| Předmět: |
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| Zdroj: |
The Medical journal of Malaysia. 55(4) |
| ISSN: |
0300-5283 |
| Popis: |
A total of 86 unrelated Malaysian patients with familial hypercholesterolaemia (FH) were studied for mutations in their low-density lipoprotein receptor (LDL-R) gene. Amongst them, 23 had a LDL-R gene mutation, while none having an Apolipoprotein B-3500 (Apo B-3500) mutation. Patients with the LDL-R gene defect appeared to have a higher level of low-density lipoprotein cholesterol (LDL-C), an increased incidence of xanthomas and coronary heart disease (CHD), but no relationships were found between the type of LDL-R gene mutations and their lipid levels or clinical signs of CHD. In contrast to Western data, our findings seemed to indicate a predominance of mutations in the ligand binding domain and an absence of Apo B-3500 gene mutation. The latter finding may offer a genetic basis as to why Asian patients with familial hypercholesterolaemia have lower LDL-C levels and less premature CHD than their Western counterparts. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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