-
1
-
-
0023713636
-
The Finnish type of the LDL receptor gene mutation: Molecular characterization of the deleted gene and the corresponding mRNA
-
Aalto-Setälä K (1988) The Finnish type of the LDL receptor gene mutation: molecular characterization of the deleted gene and the corresponding mRNA. FEBS Lett 234:411-416.
-
(1988)
FEBS Lett
, vol.234
, pp. 411-416
-
-
Aalto-Setälä, K.1
-
2
-
-
0024352311
-
Finnish type of low-density lipoprotein receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotype
-
Aalto-Setälä K, Helve E, Kovanen FT, Kontula K (1989) Finnish type of low-density lipoprotein receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotype. J Clin Invest 84:499-505.
-
(1989)
J Clin Invest
, vol.84
, pp. 499-505
-
-
Aalto-Setälä, K.1
Helve, E.2
Kovanen, F.T.3
Kontula, K.4
-
3
-
-
0026607930
-
Prevalence and geographical distribution of major LDL receptor gene arrangements in Finland
-
Aalto-Setäla K, Koivisto U-M, Miettinen TA, Gylling H, Kesäniemi YA, Savolainen M, Pyörälä K, Ebeling T, Mononen I, Turtola H, Viikari J, Kontula K (1992) Prevalence and geographical distribution of major LDL receptor gene arrangements in Finland. J Intern Med 231:227-234.
-
(1992)
J Intern Med
, vol.231
, pp. 227-234
-
-
Aalto-Setäla, K.1
Koivisto, U.-M.2
Miettinen, T.A.3
Gylling, H.4
Kesäniemi, Y.A.5
Savolainen, M.6
Pyörälä, K.7
Ebeling, T.8
Mononen, I.9
Turtola, H.10
Viikari, J.11
Kontula, K.12
-
4
-
-
0025183759
-
A simple method for generating single-stranded DNA probes labeled to high activities
-
Espelund M, Prentice RA, Jakobsen KS (1990) A simple method for generating single-stranded DNA probes labeled to high activities. Nucleic Acids Res 18 6157-6158.
-
(1990)
Nucleic Acids Res
, vol.18
, pp. 6157-6158
-
-
Espelund, M.1
Prentice, R.A.2
Jakobsen, K.S.3
-
5
-
-
0000710395
-
Familial hypercholesterolemia
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds). New York McGraw-Hill
-
Goldstein JL, Hobbs HH, Brown MS (1995) Familial hypercholesterolemia. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The Metabolic and Molecular Basis of Inherited Disease. 7th Ed. New York McGraw-Hill, pp 1981-2030.
-
(1995)
The Metabolic and Molecular Basis of Inherited Disease. 7th Ed.
, pp. 1981-2030
-
-
Goldstein, J.L.1
Hobbs, H.H.2
Brown, M.S.3
-
6
-
-
0017276019
-
The inheritance of hyperlipoproteinemia with xanthomatosis. A study of 132 kindreds
-
Heiberg A, Berg K (1976) The inheritance of hyperlipoproteinemia with xanthomatosis. A study of 132 kindreds. Clin Genet 9: 203-233.
-
(1976)
Clin Genet
, vol.9
, pp. 203-233
-
-
Heiberg, A.1
Berg, K.2
-
8
-
-
0027026881
-
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
-
Hobbs HH, Brown MS, Goldstein JL (1992) Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat 1:445-466.
-
(1992)
Hum Mutat
, vol.1
, pp. 445-466
-
-
Hobbs, H.H.1
Brown, M.S.2
Goldstein, J.L.3
-
9
-
-
0002572725
-
Direct mRNA isolation using Magnetic Oligo (dT) Beads. A protocol for all types of cell cultures, animal and plant tissues
-
Uhlén M, Homes E, Olsvik Ø (eds): Eaton Publishing
-
Jakobsen KS, Haugen M, Sæbøe-Larssen S, Hollung K, Espelund M, Homes E (1994) Direct mRNA isolation using Magnetic Oligo (dT) Beads. A protocol for all types of cell cultures, animal and plant tissues. In Uhlén M, Homes E, Olsvik Ø (eds): Advances in Biomagnetic Separation. Eaton Publishing, pp 61-71.
-
(1994)
Advances in Biomagnetic Separation
, pp. 61-71
-
-
Jakobsen, K.S.1
Haugen, M.2
Sæbøe-Larssen, S.3
Hollung, K.4
Espelund, M.5
Homes, E.6
-
10
-
-
0029772575
-
Allele-specific measurement of low-density lipoprotein receptor transcript levels
-
Jensen LG, Jensen HK, Heath F, Eiberg H, Kjeldsen M, Færgeman O, Kølvraa S, Bolund L, Gregersen N (1996) Allele-specific measurement of low-density lipoprotein receptor transcript levels. Hum Mutat 8:126-133.
-
(1996)
Hum Mutat
, vol.8
, pp. 126-133
-
-
Jensen, L.G.1
Jensen, H.K.2
Heath, F.3
Eiberg, H.4
Kjeldsen, M.5
Færgeman, O.6
Kølvraa, S.7
Bolund, L.8
Gregersen, N.9
-
11
-
-
0026794668
-
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
-
Krawczak M, Reiss J, Cooper DN (1992) The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences. Hum Genet 90:41-54.
-
(1992)
Hum Genet
, vol.90
, pp. 41-54
-
-
Krawczak, M.1
Reiss, J.2
Cooper, D.N.3
-
12
-
-
0023262783
-
Alu-Alu recombination deletes splice acceptor sites and produces secreted LDL receptor in a subject with familial hypercholesterolemia
-
Lehrman MA, Russell DW, Goldstein JL, Brown MS (1987) Alu-Alu recombination deletes splice acceptor sites and produces secreted LDL receptor in a subject with familial hypercholesterolemia. J Biol Chem 262:3354-3361.
-
(1987)
J Biol Chem
, vol.262
, pp. 3354-3361
-
-
Lehrman, M.A.1
Russell, D.W.2
Goldstein, J.L.3
Brown, M.S.4
-
13
-
-
0028149181
-
Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects
-
Leren TP, Solberg K, Rødningen OK, Tonstad S, Ose L (1994) Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects. Atherosclerosis 111:175-182.
-
(1994)
Atherosclerosis
, vol.111
, pp. 175-182
-
-
Leren, T.P.1
Solberg, K.2
Rødningen, O.K.3
Tonstad, S.4
Ose, L.5
-
14
-
-
0030936470
-
Molecular genetics of familial hypercholesterolaemia in Norway
-
Leren TP, Tonstad S, Gundersen KE, Bakken KS, Rødningen OK, Sundvold H, Ose L, Berg K (1997) Molecular genetics of familial hypercholesterolaemia in Norway. J Int Med 241:185-194.
-
(1997)
J Int Med
, vol.241
, pp. 185-194
-
-
Leren, T.P.1
Tonstad, S.2
Gundersen, K.E.3
Bakken, K.S.4
Rødningen, O.K.5
Sundvold, H.6
Ose, L.7
Berg, K.8
-
15
-
-
0029835707
-
Defects in RNA splicing and the consequence of shortened translational reading frames
-
Maquat LE (1996) Defects in RNA splicing and the consequence of shortened translational reading frames. Am J Hum Genet 59:279-286
-
(1996)
Am J Hum Genet
, vol.59
, pp. 279-286
-
-
Maquat, L.E.1
-
16
-
-
0001584433
-
Angina pectoris in hereditary xanthomatosis
-
Müller C (1939) Angina pectoris in hereditary xanthomatosis. Arch Intern Med 64.675-700.
-
(1939)
Arch Intern Med
, vol.64
, pp. 675-700
-
-
Müller, C.1
-
17
-
-
0011238681
-
Molecular structure of the human beta-actin gene; interspecies homology sequence in the introns
-
Nakajima-Iijima S, Hamada H, Reddy P, Kakunaga T (1985) Molecular structure of the human beta-actin gene; interspecies homology sequence in the introns. Proc Natl Acad Sci USA 82:6133-6137.
-
(1985)
Proc Natl Acad Sci USA
, vol.82
, pp. 6133-6137
-
-
Nakajima-Iijima, S.1
Hamada, H.2
Reddy, P.3
Kakunaga, T.4
-
18
-
-
0031042093
-
Detection and characterization of a novel splice mutation in the LDL receptor intron 12 resulting in two different mutant mRNA variants
-
Nissen H, Hansen AB, Guldberg P, Petersen NE, HansenTS, Hørner M (1997) Detection and characterization of a novel splice mutation in the LDL receptor intron 12 resulting in two different mutant mRNA variants. Atherosclerosis 128.75-83.
-
(1997)
Atherosclerosis
, vol.128
, pp. 75-83
-
-
Nissen, H.1
Hansen, A.B.2
Guldberg, P.3
Petersen, N.E.4
Hansen, T.S.5
Hørner, M.6
-
19
-
-
0029165020
-
mRNA stability in mammalian cells
-
Ross J (1995) mRNA stability in mammalian cells. Microbiol Rev 59:423-450.
-
(1995)
Microbiol Rev
, vol.59
, pp. 423-450
-
-
Ross, J.1
-
20
-
-
0027049123
-
A 9.6 kb deletion in the low density lipoprotein receptor gene found in Norwegian familial hypercholesterolemia subjects
-
Rødningen OK, Røsby O, Tonstad S, Ose L, Berg K, Leren TP (1992) A 9.6 kb deletion in the low density lipoprotein receptor gene found in Norwegian familial hypercholesterolemia subjects. Clin Genet 42:288-297.
-
(1992)
Clin Genet
, vol.42
, pp. 288-297
-
-
Rødningen, O.K.1
Røsby, O.2
Tonstad, S.3
Ose, L.4
Berg, K.5
Leren, T.P.6
-
21
-
-
0027360081
-
Haplotype analysis at the low density lipoprotein receptor locus in normal and familial hypercholesterolemia subjects
-
Redningen OK, Leren TP, Røsby O, Tonstad S, Ose L, Berg K (1993) Haplotype analysis at the low density lipoprotein receptor locus in normal and familial hypercholesterolemia subjects. Clin Genet 44:214-220.
-
(1993)
Clin Genet
, vol.44
, pp. 214-220
-
-
Redningen, O.K.1
Leren, T.P.2
Røsby, O.3
Tonstad, S.4
Ose, L.5
Berg, K.6
-
22
-
-
0029788884
-
Genetic variation at a splicing branch point in intron 9 of the low density lipoprotein (LDL)-receptor gene: A rare mutation that disrupts mRNA splicing in a patient with familial hypercholesterolaemia and a common polymorphism
-
Webb JC, Patel DD, Shoulders CC, Knight BL, Soutar AK (1996) Genetic variation at a splicing branch point in intron 9 of the low density lipoprotein (LDL)-receptor gene: A rare mutation that disrupts mRNA splicing in a patient with familial hypercholesterolaemia and a common polymorphism. Hum Mol Genet 9:1325-1331.
-
(1996)
Hum Mol Genet
, vol.9
, pp. 1325-1331
-
-
Webb, J.C.1
Patel, D.D.2
Shoulders, C.C.3
Knight, B.L.4
Soutar, A.K.5
-
23
-
-
0021742599
-
The human LDL receptor: A cysteine-rich protein with multiple Alu sequences in its mRNA
-
Yamamoto T, Davis CG, Brown MS, Schneider WJ, Casey ML, Goldstein JL, Russell DW (1984) The human LDL receptor: A cysteine-rich protein with multiple Alu sequences in its mRNA. Cell 39:27-38.
-
(1984)
Cell
, vol.39
, pp. 27-38
-
-
Yamamoto, T.1
Davis, C.G.2
Brown, M.S.3
Schneider, W.J.4
Casey, M.L.5
Goldstein, J.L.6
Russell, D.W.7
|