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Familial hypercholesterolaemia in Finland: common, rare and mild mutations of the LDL receptor and their clinical consequences. Finnish FH-group.
Vuorio AF, Aalto-Setälä K, Koivisto UM, Turtola H, Nissen H, Kovanen PT, Miettinen TA, Gylling H, Oksanen H, Kontula K; Finnish FH-group. Vuorio AF, et al. Among authors: koivisto um. Ann Med. 2001 Sep;33(6):410-21. doi: 10.3109/07853890108995954. Ann Med. 2001. PMID: 11585102
Deletion of exon 15 of the LDL receptor gene is associated with a mild form of familial hypercholesterolemia. FH-Espoo.
Koivisto PV, Koivisto UM, Kovanen PT, Gylling H, Miettinen TA, Kontula K. Koivisto PV, et al. Arterioscler Thromb. 1993 Nov;13(11):1680-8. doi: 10.1161/01.atv.13.11.1680. Arterioscler Thromb. 1993. PMID: 8218110
Familial moderate hypercholesterolemia caused by Asp235-->Glu mutation of the LDL receptor gene and co-occurrence of a de novo deletion of the LDL receptor gene in the same family.
Koivisto UM, Gylling H, Miettinen TA, Kontula K. Koivisto UM, et al. Arterioscler Thromb Vasc Biol. 1997 Jul;17(7):1392-9. doi: 10.1161/01.atv.17.7.1392. Arterioscler Thromb Vasc Biol. 1997. PMID: 9261272
The Rab8 GTPase selectively regulates AP-1B-dependent basolateral transport in polarized Madin-Darby canine kidney cells.
Ang AL, Fölsch H, Koivisto UM, Pypaert M, Mellman I. Ang AL, et al. Among authors: koivisto um. J Cell Biol. 2003 Oct 27;163(2):339-50. doi: 10.1083/jcb.200307046. J Cell Biol. 2003. PMID: 14581456 Free PMC article.
A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia.
Koivisto UM, Palvimo JJ, Jänne OA, Kontula K. Koivisto UM, et al. Proc Natl Acad Sci U S A. 1994 Oct 25;91(22):10526-30. doi: 10.1073/pnas.91.22.10526. Proc Natl Acad Sci U S A. 1994. PMID: 7937987 Free PMC article.
The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland.
Koivisto UM, Turtola H, Aalto-Setälä K, Top B, Frants RR, Kovanen PT, Syvänen AC, Kontula K. Koivisto UM, et al. J Clin Invest. 1992 Jul;90(1):219-28. doi: 10.1172/JCI115839. J Clin Invest. 1992. PMID: 1634609 Free PMC article.
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