-
1
-
-
0027026881
-
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
-
H.H. Hobbs, M.S. Brown, and J.L. Goldstein Molecular genetics of the LDL receptor gene in familial hypercholesterolemia Hum Mutat 1 6 1992 445 466
-
(1992)
Hum Mutat
, vol.1
, Issue.6
, pp. 445-466
-
-
Hobbs, H.H.1
Brown, M.S.2
Goldstein, J.L.3
-
2
-
-
0033987736
-
Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
-
J.T. Dunnen, and S.E. Antonarakis Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion Hum Mutat 15 1 2000 7 12
-
(2000)
Hum Mutat
, vol.15
, Issue.1
, pp. 7-12
-
-
Dunnen, J.T.1
Antonarakis, S.E.2
-
3
-
-
0026410930
-
Low density lipoprotein receptor founder mutations in Afrikaner familial hypercholesterolaemic patients: A comparison of two geographical areas
-
F. Graadt van Roggen, D.R. van der Westhuyzen, A.D. Marais, W. Gevers, and G.A. Coetzee Low density lipoprotein receptor founder mutations in Afrikaner familial hypercholesterolaemic patients: a comparison of two geographical areas Hum Genet 88 2 1991 204 208
-
(1991)
Hum Genet
, vol.88
, Issue.2
, pp. 204-208
-
-
Graadt Van Roggen, F.1
Van Der Westhuyzen, D.R.2
Marais, A.D.3
Gevers, W.4
Coetzee, G.A.5
-
4
-
-
0026518938
-
Molecular genetic evidence for a founder effect in familial hypercholesterolemia among French Canadians
-
C. Bétard, A.M. Kessling, and M. Roy Molecular genetic evidence for a founder effect in familial hypercholesterolemia among French Canadians Hum Genet 88 5 1992 529 536
-
(1992)
Hum Genet
, vol.88
, Issue.5
, pp. 529-536
-
-
Bétard, C.1
Kessling, A.M.2
Roy, M.3
-
5
-
-
0030856566
-
Common founder mutation in the LDL receptor gene causing familial hypercholesterolaemia in the Icelandic population
-
V. Gudnason, G. Sigurdsson, H. Nissen, and S.E. Humphries Common founder mutation in the LDL receptor gene causing familial hypercholesterolaemia in the Icelandic population Hum Mutat 10 1 1997 36 44
-
(1997)
Hum Mutat
, vol.10
, Issue.1
, pp. 36-44
-
-
Gudnason, V.1
Sigurdsson, G.2
Nissen, H.3
Humphries, S.E.4
-
6
-
-
0034164447
-
Geographical clustering of low density lipoprotein receptor gene mutations (C292X; Q363X; D365E & C660X) in Cyprus
-
S.L. Xenophontos, A. Pierides, and K. Demetriou Geographical clustering of low density lipoprotein receptor gene mutations (C292X; Q363X; D365E & C660X) in Cyprus Hum Mutat 15 4 2000 380
-
(2000)
Hum Mutat
, vol.15
, Issue.4
, pp. 380
-
-
Xenophontos, S.L.1
Pierides, A.2
Demetriou, K.3
-
7
-
-
0030936470
-
Molecular genetics of familial hypercholesterolaemia in Norway
-
T.P. Leren, S. Tonstad, and K.E. Gundersen Molecular genetics of familial hypercholesterolaemia in Norway J Int Med 241 3 1997 185 194
-
(1997)
J Int Med
, vol.241
, Issue.3
, pp. 185-194
-
-
Leren, T.P.1
Tonstad, S.2
Gundersen, K.E.3
-
8
-
-
0031660154
-
Mutations in the low-density lipoprotein receptor gene in Swedish familial hypercholesterolaemia patients: Clinical expression and treatment response
-
U. Ekström, M. Abrahamson, A. Wallmark, C.H. Florén, and P. Nilsson-Ehle Mutations in the low-density lipoprotein receptor gene in Swedish familial hypercholesterolaemia patients: clinical expression and treatment response Eur J Clin Invest 28 9 1998 740 747
-
(1998)
Eur J Clin Invest
, vol.28
, Issue.9
, pp. 740-747
-
-
Ekström, U.1
Abrahamson, M.2
Wallmark, A.3
Florén, C.H.4
Nilsson-Ehle, P.5
-
9
-
-
0032844431
-
Spectrum of LDL receptor gene mutations in Denmark: Implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia
-
H.K. Jensen, L.G. Jensen, and H. Meinertz Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia Atherosclerosis 146 2 1999 337 344
-
(1999)
Atherosclerosis
, vol.146
, Issue.2
, pp. 337-344
-
-
Jensen, H.K.1
Jensen, L.G.2
Meinertz, H.3
-
10
-
-
0026607930
-
Prevalence and geographical distribution of major LDL receptor gene rearrangements in Finland
-
K. Aalto-Setälä, U.M. Koivisto, and T.A. Miettinen Prevalence and geographical distribution of major LDL receptor gene rearrangements in Finland J Int Med 231 3 1992 227 234
-
(1992)
J Int Med
, vol.231
, Issue.3
, pp. 227-234
-
-
Aalto-Setälä, K.1
Koivisto, U.M.2
Miettinen, T.A.3
-
11
-
-
0029810771
-
Molecular genetics of familial hypercholesterolemia in Israel
-
A. Reshef, H. Nissen, and L. Triger Molecular genetics of familial hypercholesterolemia in Israel Hum Genet 98 5 1996 581 586
-
(1996)
Hum Genet
, vol.98
, Issue.5
, pp. 581-586
-
-
Reshef, A.1
Nissen, H.2
Triger, L.3
-
12
-
-
0029920091
-
Two novel mutations in the LDL receptor gene: Common causes of familial hypercholesterolemia in a Spanish population
-
A. Cenarro, H.K. Jensen, and F. Civeira Two novel mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in a Spanish population Clin Genet 49 4 1996 180 185
-
(1996)
Clin Genet
, vol.49
, Issue.4
, pp. 180-185
-
-
Cenarro, A.1
Jensen, H.K.2
Civeira, F.3
-
13
-
-
17444433890
-
LDL receptor cDNA sequence analysis in familial hypercholesterolemia patients: 5 novel mutations with high prevalence in families originating from southern Italy
-
R. Liguori, A.M. Bianco, and A. Argiriou LDL receptor cDNA sequence analysis in familial hypercholesterolemia patients: 5 novel mutations with high prevalence in families originating from southern Italy Hum Mutat 17 5 2001 433
-
(2001)
Hum Mutat
, vol.17
, Issue.5
, pp. 433
-
-
Liguori, R.1
Bianco, A.M.2
Argiriou, A.3
-
14
-
-
0035197537
-
Low-density lipoprotein receptor gene (LDLR) world-wide website in familial hypercholesterolaemia: Update, new features and mutation analysis
-
K.E. Heath, M. Gahan, R.A. Whittall, and S.E. Humphries Low-density lipoprotein receptor gene (LDLR) world-wide website in familial hypercholesterolaemia: update, new features and mutation analysis Atherosclerosis 154 1 2001 243 246
-
(2001)
Atherosclerosis
, vol.154
, Issue.1
, pp. 243-246
-
-
Heath, K.E.1
Gahan, M.2
Whittall, R.A.3
Humphries, S.E.4
-
15
-
-
0027381895
-
Polymorphic haplotypes and recombination rates at the LDL receptor gene locus in subjects with and without familial hypercholesterolemia who are from different populations
-
A.R. Miserez, H. Schuster, N. Chiodetti, and U. Keller Polymorphic haplotypes and recombination rates at the LDL receptor gene locus in subjects with and without familial hypercholesterolemia who are from different populations Am J Hum Genet 52 4 1993 808 826
-
(1993)
Am J Hum Genet
, vol.52
, Issue.4
, pp. 808-826
-
-
Miserez, A.R.1
Schuster, H.2
Chiodetti, N.3
Keller, U.4
|