TY  -  
T1  - Founder effects facilitate the use of a genotyping-based approach to molecular diagnosis in Swedish patients with familial hypercholesterolaemia 
SN  -  /  
UR  - http://hdl.handle.net/10138/340404 
T3  -  
A1  - Benedek, P.; Jiao, H.; Duvefelt, K.; Skoog, T.; Linde, M.; Kiviluoma, P.; Kere, J.; Eriksson, M.; Angelin, B. 
A2  -  
PB  -  
Y1  - 2021 
LA  - eng 
AB  - Aim To investigate whether genotyping could be used as a cost-effective screening step, preceding next-generation sequencing (NGS), in molecular diagnosis of familial hypercholesterolaemia (FH) in Swedish patients. Methods and results Three hundred patients of Swedish origin with clinical suspicion of heterozygous FH were analysed using a specific array genotyping panel embedding 112 FH-causing mutations in the LDLR, APOB and PCSK9 genes. The mutations had been selected from previous reports on ... 
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IS  -  
SP  -  
OP  -  
KW  - Familial hypercholesterolaemia; genotyping; next-generation sequencing; precision medicine; APOB; LDLR; PCSK9; 3121 General medicine, internal medicine and other clinical medicine 
N1  -   
PP  -  
ER  -