-
1
-
-
0000710395
-
Familial hypercholesterolemia
-
Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds), McGraw Hill, New York
-
Goldstein J.L., Hobbs H.H., and Brown M.S. Familial hypercholesterolemia. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The metabolic and molecular bases of inherited disease. 8th ed. vol. II (1995), McGraw Hill, New York 1981-2030
-
(1995)
The metabolic and molecular bases of inherited disease. 8th ed.
, vol.II
, pp. 1981-2030
-
-
Goldstein, J.L.1
Hobbs, H.H.2
Brown, M.S.3
-
2
-
-
33750216128
-
Analysis of LDLR mutations in familial hypercholesterolemia patients in Greece by use of the NanoChip microelectronic array technology
-
Laios E., and Drogari E. Analysis of LDLR mutations in familial hypercholesterolemia patients in Greece by use of the NanoChip microelectronic array technology. Clin Chim Acta 374 1-2 (2006) 93-99
-
(2006)
Clin Chim Acta
, vol.374
, Issue.1-2
, pp. 93-99
-
-
Laios, E.1
Drogari, E.2
-
3
-
-
29944443017
-
Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia
-
(Erratum in: Hum Mutat 2005;26(6):592)
-
Allard D., Amsellem S., Abifadel M., et al. Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia. Hum Mutat 26 5 (2005) 497 (Erratum in: Hum Mutat 2005;26(6):592)
-
(2005)
Hum Mutat
, vol.26
, Issue.5
, pp. 497
-
-
Allard, D.1
Amsellem, S.2
Abifadel, M.3
-
4
-
-
33749025102
-
Genetic causes of familial hypercholesterolemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk
-
Humphries S.E., Whittall R.A., Hubbart C.S., et al. Genetic causes of familial hypercholesterolemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk. J Med Genet 43 12 (2006) 943-949
-
(2006)
J Med Genet
, vol.43
, Issue.12
, pp. 943-949
-
-
Humphries, S.E.1
Whittall, R.A.2
Hubbart, C.S.3
-
5
-
-
0032997926
-
Allelic drop-out in exon 2 of the hepatocyte nuclear factor-1a gene hinders the identification of mutations in three families with maturity-onset diabetes of the young
-
Ellard S., Bulman M.P., Frayling T.M., Allen L.I.S., Dronsfield M.J., Tack C.J., et al. Allelic drop-out in exon 2 of the hepatocyte nuclear factor-1a gene hinders the identification of mutations in three families with maturity-onset diabetes of the young. Diabetes 48 (1999) 921-923
-
(1999)
Diabetes
, vol.48
, pp. 921-923
-
-
Ellard, S.1
Bulman, M.P.2
Frayling, T.M.3
Allen, L.I.S.4
Dronsfield, M.J.5
Tack, C.J.6
-
6
-
-
0142241148
-
A single nucleotide polymorphism under the reverse primer binding site may lead to BsmI mis-genotyping in the vitamin D receptor gene
-
Zajickova K., Krepelova A., and Zofkova I. A single nucleotide polymorphism under the reverse primer binding site may lead to BsmI mis-genotyping in the vitamin D receptor gene. J Bone Miner Res 18 10 (2003) 1754-1757
-
(2003)
J Bone Miner Res
, vol.18
, Issue.10
, pp. 1754-1757
-
-
Zajickova, K.1
Krepelova, A.2
Zofkova, I.3
-
7
-
-
11144279421
-
Allelic drop-out in the STR system ACTBP2 (SE33) as a result of mutations in the primer binding region
-
Heinrich M., Müller M., Rand S., Brinkmann B., and Hohoff C. Allelic drop-out in the STR system ACTBP2 (SE33) as a result of mutations in the primer binding region. Int J Legal Med 1189 (2004) 361-363
-
(2004)
Int J Legal Med
, vol.1189
, pp. 361-363
-
-
Heinrich, M.1
Müller, M.2
Rand, S.3
Brinkmann, B.4
Hohoff, C.5
-
8
-
-
33746271337
-
Allelic drop-out may occur with a primer binding site polymorphism for the commonly used RFLP assay for the - 1131T > C polymorphism of the Apolipoprotein AV gene
-
Ward K.J., Ellard S., Yajnik C.S., Frayling T.M., Hattersley A., and Venigalla P.N.S. Allelic drop-out may occur with a primer binding site polymorphism for the commonly used RFLP assay for the - 1131T > C polymorphism of the Apolipoprotein AV gene. Lipids Health Dis 5 (2006) 11-16
-
(2006)
Lipids Health Dis
, vol.5
, pp. 11-16
-
-
Ward, K.J.1
Ellard, S.2
Yajnik, C.S.3
Frayling, T.M.4
Hattersley, A.5
Venigalla, P.N.S.6
-
9
-
-
0027026881
-
Molecular genetics of the LDL receptor gene in familial hypercholesterolaemia
-
Hobbs H.H., Brown M.S., and Goldstein J.L. Molecular genetics of the LDL receptor gene in familial hypercholesterolaemia. Hum Mutat 1 (1992) 445-466
-
(1992)
Hum Mutat
, vol.1
, pp. 445-466
-
-
Hobbs, H.H.1
Brown, M.S.2
Goldstein, J.L.3
-
10
-
-
0029781013
-
Clinically applicable mutation screening in familial hypercholesterolemia
-
Nissen H., Guldberg P., Hansen A.B., Petersen N.E., and Horder M. Clinically applicable mutation screening in familial hypercholesterolemia. Hum Mutat 8 (1996) 168-177
-
(1996)
Hum Mutat
, vol.8
, pp. 168-177
-
-
Nissen, H.1
Guldberg, P.2
Hansen, A.B.3
Petersen, N.E.4
Horder, M.5
|