-
1
-
-
0000710395
-
Familial Hypercholesterolemia
-
Scriver, C.R., Beaudet, A.L., Sly, W.S., and Valle, D., Eds., New York: McGraw-Hill
-
Goldstein, J.L., Hobbs, H.H., and Brown, M.S., Familial Hypercholesterolemia, The Metabolic Basis of Inherited Diseases, Scriver, C.R., Beaudet, A.L., Sly, W.S., and Valle, D., Eds., New York: McGraw-Hill, 1995, pp. 1981-2030.
-
(1995)
The Metabolic Basis of Inherited Diseases
, pp. 1981-2030
-
-
Goldstein, J.L.1
Hobbs, H.H.2
Brown, M.S.3
-
2
-
-
0027172545
-
A Novel Deletion in the Low Density Lipoprotein Receptor Gene in a Patient with Familial Hypercholesterolemia from Petersburg
-
Mandelshtam, M.Ju., Lipovetskyi, B.M., Schwartzman, A.L., and Gaitskhoki, V.S., A Novel Deletion in the Low Density Lipoprotein Receptor Gene in a Patient with Familial Hypercholesterolemia From Petersburg, Hum. Mutat., 1993, vol. 2, no. 4, pp. 256-260.
-
(1993)
Hum. Mutat.
, vol.2
, Issue.4
, pp. 256-260
-
-
Mandelshtam, M.Ju.1
Lipovetskyi, B.M.2
Schwartzman, A.L.3
Gaitskhoki, V.S.4
-
3
-
-
0028990070
-
Molecular Heterogeneity of Familial Hypercholesterolemia in the St. Petersburg Population
-
Moscow
-
Mandel'shtam, M.Yu., Lipovetskii, B.M., Shvartsman, A.L., and Gaitskhoki, V.S., Molecular Heterogeneity of Familial Hypercholesterolemia in the St. Petersburg Population, Genetika (Moscow), 1995, vol. 31, no. 4, pp. 521-527.
-
(1995)
Genetika
, vol.31
, Issue.4
, pp. 521-527
-
-
Mandel'shtam, M.Yu.1
Lipovetskii, B.M.2
Shvartsman, A.L.3
Gaitskhoki, V.S.4
-
4
-
-
7344222069
-
Prevalence of Lithuanian Mutation among St. Petersburg Jews with Familial Hypercholesterolemia
-
Mandelshtam, M.Ju., Chakir, Kh., Shevtsov, S.P., et al., Prevalence of Lithuanian Mutation among St. Petersburg Jews with Familial Hypercholesterolemia, Human. Mutat., 1998, vol. 12, pp. 255-258.
-
(1998)
Human. Mutat.
, vol.12
, pp. 255-258
-
-
Mandelshtam, M.Ju.1
Chakir, Kh.2
Shevtsov, S.P.3
-
5
-
-
0032441342
-
Two Novel Low-Density Lipoprotein Receptor Gene Mutations (E397X and 347delGCS) in St. Petersburg Familial Hypercholesterolemia
-
Chakir, Kh., Mandelshtam, M.Ju., Shevtsov, S.P., et al., Two Novel Low-Density Lipoprotein Receptor Gene Mutations (E397X and 347delGCS) in St. Petersburg Familial Hypercholesterolemia, Mol. Genet. Metab., 1998, vol. 65, pp. 311-314.
-
(1998)
Mol. Genet. Metab.
, vol.65
, pp. 311-314
-
-
Chakir, Kh.1
Mandelshtam, M.Ju.2
Shevtsov, S.P.3
-
6
-
-
0347688350
-
New Mutation 347delGCC in the Human Low-Density Lipoprotein Receptor
-
Mandel'shtam, M.Yu., Golubkov, V.I., Shur, Yu.A., et al., New Mutation 347delGCC in the Human Low-Density Lipoprotein Receptor, Bioorg. Khim., 1998, vol. 24, no. 10, pp. 768-770.
-
(1998)
Bioorg. Khim.
, vol.24
, Issue.10
, pp. 768-770
-
-
Mandel'shtam, M.Yu.1
Golubkov, V.I.2
Shur, Yu.A.3
-
7
-
-
17044461643
-
Clinical Genetic Aspects of Familial Hypercholesterolemia and Their Applied Significance
-
Lipovetskii, B.M., Mandel'shtam, M.Yu., Gaitskhoki, V.S., and Vasil'eva, L.E., Clinical Genetic Aspects of Familial Hypercholesterolemia and Their Applied Significance, Ter. Arkh., 1996, vol. 68, no. 1, pp. 24-29.
-
(1996)
Ter. Arkh.
, vol.68
, Issue.1
, pp. 24-29
-
-
Lipovetskii, B.M.1
Mandel'shtam, M.Yu.2
Gaitskhoki, V.S.3
Vasil'eva, L.E.4
-
8
-
-
1842353216
-
Analyses of Human Y Chromosome-Specific Reiterated DNA in Chromosome Variants
-
Kunkel, L.M., Smith, K.D., Boyer, S.H., et al., Analyses of Human Y Chromosome-Specific Reiterated DNA in Chromosome Variants, Proc. Natl. Acad. Sci. USA, 1977, vol. 74, pp. 1245-1249.
-
(1977)
Proc. Natl. Acad. Sci. USA
, vol.74
, pp. 1245-1249
-
-
Kunkel, L.M.1
Smith, K.D.2
Boyer, S.H.3
-
9
-
-
0027026881
-
Molecular Genetics of the LDL Receptor Gene in Familial Hypercholesterolemia
-
Hobbs, H.H., Brown, M.S., and Goldstein, J.L., Molecular Genetics of the LDL Receptor Gene in Familial Hypercholesterolemia, Hum. Mutat., 1992, vol. 1, pp. 445-466.
-
(1992)
Hum. Mutat.
, vol.1
, pp. 445-466
-
-
Hobbs, H.H.1
Brown, M.S.2
Goldstein, J.L.3
-
11
-
-
0004136246
-
-
Cold Spring Harbor, New York: Cold Spring Harbor Lab.
-
Sambrook, J., Fritsch, E.F., and Maniatis, T., Molecular Cloning: A Laboratory Manual, Cold Spring Harbor, New York: Cold Spring Harbor Lab., 1989, pp. 1.8-1.9.
-
(1989)
Molecular Cloning: A Laboratory Manual
, pp. 18-19
-
-
Sambrook, J.1
Fritsch, E.F.2
Maniatis, T.3
-
12
-
-
0026549893
-
Detecting Single Base Substitutions as Heteroduplex Polymorphisms
-
White, M.B., Carvalho, M., Derse, D., et al., Detecting Single Base Substitutions as Heteroduplex Polymorphisms, Genomics, 1992, vol. 12, pp. 301-306.
-
(1992)
Genomics
, vol.12
, pp. 301-306
-
-
White, M.B.1
Carvalho, M.2
Derse, D.3
-
13
-
-
0024595101
-
Detection of Polymorphism of Human DNA by Gel Electrophoresis as Single Strand Conformational Polymorphism
-
Orita, M., Iwahana, H., Sekiya, T., Hayashi, K., et al., Detection of Polymorphism of Human DNA by Gel Electrophoresis as Single Strand Conformational Polymorphism, Proc. Natl. Acad. Sci. USA, 1990, vol. 86, pp. 2766-2770.
-
(1990)
Proc. Natl. Acad. Sci. USA
, vol.86
, pp. 2766-2770
-
-
Orita, M.1
Iwahana, H.2
Sekiya, T.3
Hayashi, K.4
-
14
-
-
0017681196
-
DNA Sequencing with Chain-Terminating Inhibitors
-
Sanger, F., Nicklken, S., and Coulson, A.R., DNA Sequencing with Chain-Terminating Inhibitors, Proc. Natl. Acad. Sci. USA, 1977, vol. 74, pp. 5463-5467.
-
(1977)
Proc. Natl. Acad. Sci. USA
, vol.74
, pp. 5463-5467
-
-
Sanger, F.1
Nicklken, S.2
Coulson, A.R.3
-
15
-
-
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
-
Washington, DC
-
Jensen, H.K., Jensen, L.G., Hansen, P.S., et al., 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. (Washington, DC), 1996, vol. 42, pp. 1140-1146.
-
(1996)
Clin. Chem.
, vol.42
, pp. 1140-1146
-
-
Jensen, H.K.1
Jensen, L.G.2
Hansen, P.S.3
-
16
-
-
0026664117
-
Detection of a Frequent Polymorphism in Exon 10 of the Low-Density Lipoprotein Receptor Gene
-
Warnich, L., Kotze, M.J., Langenhoven, E., and Retief, A.E., Detection of a Frequent Polymorphism in Exon 10 of the Low-Density Lipoprotein Receptor Gene, Hum. Genet., 1992, vol. 89, no. 3, p. 362.
-
(1992)
Hum. Genet.
, vol.89
, Issue.3
, pp. 362
-
-
Warnich, L.1
Kotze, M.J.2
Langenhoven, E.3
Retief, A.E.4
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