-
1
-
-
0002230202
-
Familial hypercholesterolemia
-
Scriver CR, Beaudet AL, Sly WS, Valle D, editors. New York: McGraw-Hill
-
Goldstein JL, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic basis of inherited disease. 6nd ed. New York: McGraw-Hill, 1989:1215-50.
-
(1989)
The Metabolic Basis of Inherited Disease. 6nd Ed.
, pp. 1215-1250
-
-
Goldstein, J.L.1
Brown, M.S.2
-
2
-
-
0027026881
-
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
-
Hobbs HH, Brown MS, Goldstein JL. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat 1992; 1:445-66.
-
(1992)
Hum Mutat
, vol.1
, pp. 445-466
-
-
Hobbs, H.H.1
Brown, M.S.2
Goldstein, J.L.3
-
3
-
-
0026741899
-
Characterization of deletions in the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom
-
Sun X-M, Webb JC, Gudnason V, Humphries S, Seed M, Thompson GR, et al. Characterization of deletions in the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom. Arterioscler Thromb 1992; 12:762-70.
-
(1992)
Arterioscler Thromb
, vol.12
, pp. 762-770
-
-
Sun, X.-M.1
Webb, J.C.2
Gudnason, V.3
Humphries, S.4
Seed, M.5
Thompson, G.R.6
-
4
-
-
0025309616
-
Molecular scanning methods of mutation detection
-
Rossiter BJF, Caskey CT. Molecular scanning methods of mutation detection. J Biol Chem 1990; 265:12753-6.
-
(1990)
J Biol Chem
, vol.265
, pp. 12753-12756
-
-
Rossiter, B.J.F.1
Caskey, C.T.2
-
6
-
-
0029779010
-
High sensitivity of the single-strand conformation polymorphism method for detecting sequence variations in the low-density lipoprotein receptor gene validated by DNA sequencing
-
Jensen HK, Jensen LG, Hansen PS, Faergeman O, Gregersen N. High sensitivity of the single-strand conformation polymorphism method for detecting sequence variations in the low-density lipoprotein receptor gene validated by DNA sequencing. Clin Chem 1996; 42:1140-6.
-
(1996)
Clin Chem
, vol.42
, pp. 1140-1146
-
-
Jensen, H.K.1
Jensen, L.G.2
Hansen, P.S.3
Faergeman, O.4
Gregersen, N.5
-
7
-
-
0028901081
-
Mutations in the low density lipoprotein receptor gene of familial hypercholesteremia patients by denaturing gradient gel electrophoresis and direct sequencing
-
Lombardi P, Sijbrands EJG, van de Giessen K, Smelt AHM, Kastelein JJP, Frants RR, Havekes LM. Mutations in the low density lipoprotein receptor gene of familial hypercholesteremia patients by denaturing gradient gel electrophoresis and direct sequencing. J Lipid Res 1995; 36:860-7.
-
(1995)
J Lipid Res
, vol.36
, pp. 860-867
-
-
Lombardi, P.1
Sijbrands, E.J.G.2
Van De Giessen, K.3
Smelt, A.H.M.4
Kastelein, J.J.P.5
Frants, R.R.6
Havekes, L.M.7
-
8
-
-
0344853332
-
Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants
-
Kunkel LM, Smith KD, Boyer SH, Borgaonkar DS, Wachtel SS, Miller OJ, et al. Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci USA 1977; 86:212-6.
-
(1977)
Proc Natl Acad Sci USA
, vol.86
, pp. 212-216
-
-
Kunkel, L.M.1
Smith, K.D.2
Boyer, S.H.3
Borgaonkar, D.S.4
Wachtel, S.S.5
Miller, O.J.6
-
9
-
-
0022543019
-
A DNA polymorphism in the human low-density lipoprotein receptor gene
-
Kotze MJ, Retief AE, Brink PA, Welch HFH. A DNA polymorphism in the human low-density lipoprotein receptor gene. S Afr Med J 1986; 70:77-9.
-
(1986)
S Afr Med J
, vol.70
, pp. 77-79
-
-
Kotze, M.J.1
Retief, A.E.2
Brink, P.A.3
Welch, H.F.H.4
-
10
-
-
0023687663
-
Human LDL receptor gene: HincII polymorphism detected by gene amplification
-
Leitersdorf E, Hobbs HH. Human LDL receptor gene: HincII polymorphism detected by gene amplification. Nucleic Acids Res 1988; 16:7215.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 7215
-
-
Leitersdorf, E.1
Hobbs, H.H.2
-
13
-
-
0023650906
-
Double Mspl RFLP in the human LDL receptor gene
-
Geisel J, Weisshaar B, Oette K, Mechtel M, Doerffler W. Double Mspl RFLP in the human LDL receptor gene. Nucleic Acids Res 1987; 15:3943.
-
(1987)
Nucleic Acids Res
, vol.15
, pp. 3943
-
-
Geisel, J.1
Weisshaar, B.2
Oette, K.3
Mechtel, M.4
Doerffler, W.5
-
14
-
-
0025266556
-
Common low-density lipoprotein receptor mutations in the French Canadian population
-
Leitersdorf E, Tobin EJ, Davignon J, Hobbs HH. Common low-density lipoprotein receptor mutations in the French Canadian population. J Clin Invest 1990; 85:1014-23.
-
(1990)
J Clin Invest
, vol.85
, pp. 1014-1023
-
-
Leitersdorf, E.1
Tobin, E.J.2
Davignon, J.3
Hobbs, H.H.4
-
15
-
-
0026762461
-
Characterization of two new point mutations in the low density lipoprotein receptor genes of an English patient with homozygous familial hypercholesterolemia
-
Webb JC, Sun X-M, Patel DD, McCarthy SN, Knight BL, Soutar AK. Characterization of two new point mutations in the low density lipoprotein receptor genes of an English patient with homozygous familial hypercholesterolemia. J Lipd Res 1992; 33:689-98.
-
(1992)
J Lipd Res
, vol.33
, pp. 689-698
-
-
Webb, J.C.1
Sun, X.-M.2
Patel, D.D.3
McCarthy, S.N.4
Knight, B.L.5
Soutar, A.K.6
-
16
-
-
0023750089
-
Mutational analysis of the ligand binding domain of the low density lipoprotein receptor
-
Esser V, Limbird LE, Brown MS, Goldstein JL, Russell DW. Mutational analysis of the ligand binding domain of the low density lipoprotein receptor. J Biol Chem 1988; 263:13282-90.
-
(1988)
J Biol Chem
, vol.263
, pp. 13282-13290
-
-
Esser, V.1
Limbird, L.E.2
Brown, M.S.3
Goldstein, J.L.4
Russell, D.W.5
-
17
-
-
0025597137
-
The LDL receptor locus in familial hypercholesterolemia: Mutational analysis of a membrane protein
-
Hobbs HH, Russell DW, Brown MS, Goldstein JL. The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein. Annu Rev Genet 1990;24:133-70.
-
(1990)
Annu Rev Genet
, vol.24
, pp. 133-170
-
-
Hobbs, H.H.1
Russell, D.W.2
Brown, M.S.3
Goldstein, J.L.4
-
18
-
-
0029743388
-
Oligonucleotide ligation assay (OLA) for the diagnosis of familial hypercholesterolemia
-
Baron H, Fung S, Aydin A, Bähring S, Luft FC, Schuster H. Oligonucleotide ligation assay (OLA) for the diagnosis of familial hypercholesterolemia. Nat Biotechnol 1996; 14:1279-82.
-
(1996)
Nat Biotechnol
, vol.14
, pp. 1279-1282
-
-
Baron, H.1
Fung, S.2
Aydin, A.3
Bähring, S.4
Luft, F.C.5
Schuster, H.6
-
19
-
-
0029082087
-
Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolemia
-
Geisel J, Holzem G, Oette K. Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolemia. Hum Genet 1995; 96:301-4.
-
(1995)
Hum Genet
, vol.96
, pp. 301-304
-
-
Geisel, J.1
Holzem, G.2
Oette, K.3
-
20
-
-
0030164699
-
Screening for mutations in the LDL receptor gene and apolipoprotein B-100 gene in 218 patients with severe hypercholesterolemia
-
Geisel J, Holzem G, Schleifenbaum T, Oette K. Screening for mutations in the LDL receptor gene and apolipoprotein B-100 gene in 218 patients with severe hypercholesterolemia. Z Gastroenterol 1996; 34 Suppl 3:14-5.
-
(1996)
Z Gastroenterol
, vol.34
, Issue.3 SUPPL.
, pp. 14-15
-
-
Geisel, J.1
Holzem, G.2
Schleifenbaum, T.3
Oette, K.4
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