Familial hypercholesterolemia (FH) is a genetic disease caused by mutations in the low-density lipoprotein receptor gene. Among the more than 200 mutations so far identified, the T705I substitution in exon 15, designated FH-Paris 9, has been previously described as an FH-causing mutation. During the course of denaturing gradient gel electrophoretic screening of exon 15 we have identified the T705I single-base substitution not only in an FH family but also in a control, normocholesterolemic population. Therefore, we conclude that FH-Paris 9 is a missense mutation not associated with FH.
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Received: 5 March 1996 / Revised: 28 July 1996
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Lombardi, P., Sijbrands, E., Kamerling, S. et al. The T705I mutation of the low density lipoprotein receptor gene (FH Paris-9) does not cause familial hypercholesterolemia. Hum Genet 99, 106–107 (1996). https://doi.org/10.1007/s004390050321
- Genetic Disease
- Density Lipoprotein
- Missense Mutation
- Receptor Gene
- Familial Hypercholesterolemia