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The T705I mutation of the low density lipoprotein receptor gene (FH Paris-9) does not cause familial hypercholesterolemia.

作者信息

Lombardi P, Sijbrands E J, Kamerling S, Leuven J A, Havekes L M

机构信息

TNO-PG, Gaubius Laboratory, Leiden, The Netherlands.

出版信息

Hum Genet. 1997 Jan;99(1):106-7. doi: 10.1007/s004390050321.

DOI:10.1007/s004390050321
PMID:9003505
Abstract

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.

摘要

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