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Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes

BACKGROUND: In the Netherlands, a screening programme was set up in 1994 in order to identify all patients with familial hypercholesterolaemia (FH). After 15 years of screening, we evaluated the geographical distribution, possible founder effects and clinical phenotype of the 12 most prevalent FH ge...

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Detalles Bibliográficos
Autores principales: Kusters, D. M., Huijgen, R., Defesche, J. C., Vissers, M. N., Kindt, I., Hutten, B. A., Kastelein, J. J. P.
Formato: Texto
Lenguaje:English
Publicado: Bohn Stafleu van Loghum 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3058324/
https://www.ncbi.nlm.nih.gov/pubmed/21475731
http://dx.doi.org/10.1007/s12471-011-0076-6