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Volumn 110, Issue 8, 1998, Pages 300-302

Familial hypercholesterolemia: Identification and molecular characterization of the first compound homozygous patient in Spain;Hipercolesterolemia familiar: Identificación y caracterización molecular del primer homozigoto compuesto Español

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

EID: 0032492292     PISSN: 00257753     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (2)

References (25)
  • 1
    • 0022549920 scopus 로고
    • A receptor-mediated pathway for cholesterol homeostasis
    • Brown MS, Goldstein JL A receptor-mediated pathway for cholesterol homeostasis. Science 1986; 232: 34-47.
    • (1986) Science , vol.232 , pp. 34-47
    • Brown, M.S.1    Goldstein, J.L.2
  • 2
    • 0025597137 scopus 로고
    • The LDL receptor locus in familial hypercholesterolemia: Mutation analysis of a membrane protein
    • Hobbs H, Russel D, Brown MS, Goldstein JL. The LDL receptor locus in familial hypercholesterolemia: mutation analysis of a membrane protein. Annu Rev Genet 1990; 24: 133-170.
    • (1990) Annu Rev Genet , vol.24 , pp. 133-170
    • Hobbs, H.1    Russel, D.2    Brown, M.S.3    Goldstein, J.L.4
  • 4
    • 0027026881 scopus 로고
    • Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
    • Hobbs H, Brown MS, Golstein JL. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat 1992; 1: 445-466.
    • (1992) Hum Mutat , vol.1 , pp. 445-466
    • Hobbs, H.1    Brown, M.S.2    Golstein, J.L.3
  • 5
    • 0024595101 scopus 로고
    • Detection of polymorphism of human DNA by gel electrophoresis as single-strand conformational polymorphisms
    • Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T. Detection of polymorphism of human DNA by gel electrophoresis as single-strand conformational polymorphisms. Proc Natl Acad Sci USA 1989; 86: 2.766-2.770.
    • (1989) Proc Natl Acad Sci USA , vol.86
    • Orita, M.1    Iwahana, H.2    Kanazawa, H.3    Hayashi, K.4    Sekiya, T.5
  • 6
    • 0027723309 scopus 로고
    • Changes in lipoprotein (a), LDL cholesterol and apolipoprotein B in homozygous familial hypercholesterolemic patients treated with dextran sulfate LDL-apheresis
    • Lasunción MA, Teruel JL, Álvarez JJ, Carrero P, Ortuño J, Gómez-Coronado D. Changes in lipoprotein (a), LDL cholesterol and apolipoprotein B in homozygous familial hypercholesterolemic patients treated with dextran sulfate LDL-apheresis. Eur J Clin Invest 1993; 23: 819-826.
    • (1993) Eur J Clin Invest , vol.23 , pp. 819-826
    • Lasunción, M.A.1    Teruel, J.L.2    Álvarez, J.J.3    Carrero, P.4    Ortuño, J.5    Gómez-Coronado, D.6
  • 7
    • 0026499007 scopus 로고
    • Lipoproteína (a) en suero durante el tratamiento con aféresis de LDL en la hipercolesterolemia familiar homozigótica
    • Barc
    • Lasunción MA, Teruel JL, Álvarez JJ, Gómez-Coronado D, Ortuño J, Herrera E. Lipoproteína (a) en suero durante el tratamiento con aféresis de LDL en la hipercolesterolemia familiar homozigótica. Med Clin (Barc) 1992; 99: 541-544.
    • (1992) Med Clin , vol.99 , pp. 541-544
    • Lasunción, M.A.1    Teruel, J.L.2    Álvarez, J.J.3    Gómez-Coronado, D.4    Ortuño, J.5    Herrera, E.6
  • 8
    • 0029055583 scopus 로고
    • Pregnancy in a patient with homozigous familial hypercholesterolemia undergoing LDL-apheresis by dextran sulphate adsorption treatment
    • Teruel JL, Lasunción MA, Navarro JF, Carrero P, Ortuño J. Pregnancy in a patient with homozigous familial hypercholesterolemia undergoing LDL-apheresis by dextran sulphate adsorption treatment. Metabolism 1995; 44: 929-933.
    • (1995) Metabolism , vol.44 , pp. 929-933
    • Teruel, J.L.1    Lasunción, M.A.2    Navarro, J.F.3    Carrero, P.4    Ortuño, J.5
  • 9
    • 0020210930 scopus 로고
    • Ultrasensitive staining of nucleid acids with silver
    • Beidler JL, Hilliard PR, Rill RL. Ultrasensitive staining of nucleid acids with silver. Anal Biochem 1982; 126: 374-380.
    • (1982) Anal Biochem , vol.126 , pp. 374-380
    • Beidler, J.L.1    Hilliard, P.R.2    Rill, R.L.3
  • 11
    • 0027443752 scopus 로고
    • How effective is drug therapy in heterozygous familial hypercholesterolemia
    • Illingworth DR. How effective is drug therapy in heterozygous familial hypercholesterolemia. Am J Cardiol 1993; 72: 54-58.
    • (1993) Am J Cardiol , vol.72 , pp. 54-58
    • Illingworth, D.R.1
  • 12
    • 0026549150 scopus 로고
    • Treatment of children with homozygous familial hypercholesterolemia: Safety and efficacy of low-density lipoprotein apheresis
    • Uauy R, Zwiener RJ, Phillips MJ, Petruska ML, Bilheimer DW. Treatment of children with homozygous familial hypercholesterolemia: safety and efficacy of low-density lipoprotein apheresis. J Pediatr 1992; 120: 892-898.
    • (1992) J Pediatr , vol.120 , pp. 892-898
    • Uauy, R.1    Zwiener, R.J.2    Phillips, M.J.3    Petruska, M.L.4    Bilheimer, D.W.5
  • 13
    • 0026434367 scopus 로고
    • Tratamiento de la hipercolesterolemia familiar homozigótica con aféresis continua de lipoproteínas de baja densidad
    • Barc
    • Teruel JL, Lasunción MA, Castañón MA, Gallego N, Herrera E, Ortuño J. Tratamiento de la hipercolesterolemia familiar homozigótica con aféresis continua de lipoproteínas de baja densidad. Med Clin (Barc) 1991; 97: 738-740.
    • (1991) Med Clin , vol.97 , pp. 738-740
    • Teruel, J.L.1    Lasunción, M.A.2    Castañón, M.A.3    Gallego, N.4    Herrera, E.5    Ortuño, J.6
  • 15
    • 0027436712 scopus 로고
    • Therapeutic strategies for familial hypercholesterolemia based on somatic gene transfer
    • Wilson JM, Grossman M. Therapeutic strategies for familial hypercholesterolemia based on somatic gene transfer. Am J Cardiol 1993; 72: 59-63.
    • (1993) Am J Cardiol , vol.72 , pp. 59-63
    • Wilson, J.M.1    Grossman, M.2
  • 16
    • 0022259920 scopus 로고
    • The LDL receptor gene: A mosaic of exons shared with different proteins
    • Südhof TC, Goldstein JL, Brown MS, Russell DW. The LDL receptor gene: a mosaic of exons shared with different proteins Science 1983; 228: 815-822.
    • (1983) Science , vol.228 , pp. 815-822
    • Südhof, T.C.1    Goldstein, J.L.2    Brown, M.S.3    Russell, D.W.4
  • 17
    • 0026207465 scopus 로고
    • PCR-SSCP: A simple and sensitive method for detection of mutations in genomic DNA
    • Hayasi K. PCR-SSCP: a simple and sensitive method for detection of mutations in genomic DNA. PCR Methods Applic 1991; 1: 34-48.
    • (1991) PCR Methods Applic , vol.1 , pp. 34-48
    • Hayasi, K.1
  • 18
    • 0027434131 scopus 로고
    • How sensitive is PCRSSCP?
    • Hayasi K, Yandell DW. How sensitive is PCRSSCP? Hum Mut 1993; 2: 338-346
    • (1993) Hum Mut , vol.2 , pp. 338-346
    • Hayasi, K.1    Yandell, D.W.2
  • 19
    • 0029792459 scopus 로고    scopus 로고
    • Seven DNA polymorphisms in the LDL receptor gene: Application to the study of familial hypercholesterolemia in Spain
    • Chaves JF, Puig O, Garcia-Sogo M, Real J, Gil JV, Ascaso JF et al. Seven DNA polymorphisms in the LDL receptor gene: application to the study of familial hypercholesterolemia in Spain. Clin Genet 1996; 50: 28-35.
    • (1996) Clin Genet , vol.50 , pp. 28-35
    • Chaves, J.F.1    Puig, O.2    Garcia-Sogo, M.3    Real, J.4    Gil, J.V.5    Ascaso, J.F.6
  • 20
    • 0029843183 scopus 로고    scopus 로고
    • A three allelic polymorphic system in exon 12 of LDL receptor gene is highly informative for segregation analysis of familial hypercholesterolemia in the Spanish population
    • Chaves JF, Puig O, Garcia-Sogo M, Real J, Armengod ME. A three allelic polymorphic system in exon 12 of LDL receptor gene is highly informative for segregation analysis of familial hypercholesterolemia in the Spanish population. Clin Genet 1996; 50: 50-53.
    • (1996) Clin Genet , vol.50 , pp. 50-53
    • Chaves, J.F.1    Puig, O.2    Garcia-Sogo, M.3    Real, J.4    Armengod, M.E.5
  • 21
    • 0028328957 scopus 로고
    • Report on a molecular diagnostic service for familial hypercholesterolemia in Afrikaners
    • Kotze MJ, Langenhoven E, Theart L, Marx MP, Oosthuizen CJ. Report on a molecular diagnostic service for familial hypercholesterolemia in Afrikaners. Genet Couns 1994; 5: 15-21.
    • (1994) Genet Couns , vol.5 , pp. 15-21
    • Kotze, M.J.1    Langenhoven, E.2    Theart, L.3    Marx, M.P.4    Oosthuizen, C.J.5
  • 23
    • 0019734418 scopus 로고
    • Risk assessment and health hazard appraisal
    • Vogt TM. Risk assessment and health hazard appraisal. Ann Rev Public Health 1981; 2: 31-47.
    • (1981) Ann Rev Public Health , vol.2 , pp. 31-47
    • Vogt, T.M.1
  • 24
    • 0027377974 scopus 로고
    • Psychological and ethical considerations in screening for disease
    • Quaid KA. Psychological and ethical considerations in screening for disease. Am J Cardiol 1993; 72: 64-67.
    • (1993) Am J Cardiol , vol.72 , pp. 64-67
    • Quaid, K.A.1
  • 25
    • 2542624899 scopus 로고    scopus 로고
    • Terapia génica humana: Tendencias y problemas actuales
    • Barc
    • Lazo PA. Terapia génica humana: tendencias y problemas actuales. Med Clin (Barc) 1996; 106: 469-476.
    • (1996) Med Clin , vol.106 , pp. 469-476
    • Lazo, P.A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.