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Human Genetics
Volumn 99, Issue 1, 1996, Pages 106-107
The T705I mutation of the low density lipoprotein receptor gene (FH Paris-9) does not cause familial hypercholesterolemia
Author keywords

[No Author keywords available]
Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR; CHOLESTEROL;
EID: 0030614602     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050321     Document Type: Article
Times cited : (30)
References (6)
  • 1
    • 0027026881 scopus 로고
    • 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
  • 2
    • 0028901081 scopus 로고
    • Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing
    • Lombardi P, Sijbrands EJG, Giessen K van de, Smelt AHM, Kastelein JJP, Frants RR, Havekes LM (1995) Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing. J Lipid Res 36:860-867
    • (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
  • 3
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16: 1215
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 4
    • 0027220664 scopus 로고
    • Two new polymorphisms in the coding sequence of the LDL receptor gene
    • Saint-Jore B, Loux N, Junien C, Boileau C (1993) Two new polymorphisms in the coding sequence of the LDL receptor gene. Hum Genet 91:511-512
    • (1993) Hum Genet , vol.91 , pp. 511-512
    • Saint-Jore, B.1    Loux, N.2    Junien, C.3    Boileau, C.4
  • 5
    • 0023775474 scopus 로고
    • Apolipoprotein e polymorphism in the Netherlands and its effect on plasma lipid and apolipoprotein level
    • Smit M, Knijff P de, Rosseneu M, Bury J, Klasen E, Frants R, Havekes L (1988) Apolipoprotein E polymorphism in The Netherlands and its effect on plasma lipid and apolipoprotein level. Hum Genet 80:287-292
    • (1988) Hum Genet , vol.80 , pp. 287-292
    • Smit, M.1    De Knijff, P.2    Rosseneu, M.3    Bury, J.4    Klasen, E.5    Frants, R.6    Havekes, L.7
  • 6
    • 0028910869 scopus 로고
    • Characterization of a splice-site mutation in the gene for the LDL receptor associated with an unpredictably severe clinical phenotype in English patients with heterozygous FH
    • Sun X-M, Patel DD, Bhatnagar BL, Knight BL, Soutar AK (1995) Characterization of a splice-site mutation in the gene for the LDL receptor associated with an unpredictably severe clinical phenotype in English patients with heterozygous FH. Arterioscler Thromb Vasc Biol 15:219-227
    • (1995) Arterioscler Thromb Vasc Biol , vol.15 , pp. 219-227
    • Sun, X.-M.1    Patel, D.D.2    Bhatnagar, B.L.3    Knight, B.L.4    Soutar, A.K.5

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.