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Volumn 17, Issue 12, 2010, Pages 1297-1301

Point mutation (C TO T) of the LCAT gene resulting in A140C substitution

Author keywords

A140C; Gene mutation; LCAT deficiency

Indexed keywords

CHOLESTEROL ACYLTRANSFERASE;

EID: 78650811990     PISSN: 13403478     EISSN: 18803873     Source Type: Journal    
DOI: 10.5551/jat.5488     Document Type: Article
Times cited : (8)

References (13)
  • 1
    • 84907041541 scopus 로고
    • Familial plasma lecithin: Cholesterol acyltransferase deficiency
    • Norum KR, Gjone E: Familial plasma lecithin: cholesterol acyltransferase deficiency. Scand J Clin Invest, 1967; 20: 231-243
    • (1967) Scand J Clin Invest , vol.20 , pp. 231-243
    • Norum, K.R.1    Gjone, E.2
  • 2
    • 0023017415 scopus 로고
    • Lecithin: Cholesterol acyltransferase syndromes
    • Frohlich J, McLeod R: Lecithin: cholesterol acyltransferase syndromes. Adv Exp Med Biol, 1986; 201: 181-194
    • (1986) Adv Exp Med Biol , vol.201 , pp. 181-194
    • Frohlich, J.1    McLeod, R.2
  • 4
    • 0025786952 scopus 로고
    • Akanuma Y Differential phenotypic expression by three mutant alleles in familial lecithin: Cholesterol acyltransferase deficiency
    • Gotoda T, Yamada, N, Murase T, Sakuma M, Murayama N, Shimano H, Kozaki K, Albers J.J, Yazaki Y, Akanuma Y Differential phenotypic expression by three mutant alleles in familial lecithin: cholesterol acyltransferase deficiency. Lancet, 1991; 338: 778-781
    • (1991) Lancet , vol.338 , pp. 778-781
    • Gotoda, T.1    Yamada, N.2    Murase, T.3    Sakuma, M.4    Murayama, N.5    Shimano, H.6    Kozaki, K.7    Albers, J.J.8    Yazaki, Y.9
  • 5
    • 0000578727 scopus 로고
    • Lecithin: Cholesterol acyltransferase deficiency and Fish-eye disease 60
    • In Scriver CR, et al. (eds), McGraw-Hill, New York
    • Glomset JA, Assmann G, Gjone E, Norum KR: Lecithin: cholesterol acyltransferase deficiency and Fish-eye disease 60, The Metabolic and Molecular Bases of Inherited Disease, Vol 2. In Scriver CR, et al. (eds), pp1933-1951, McGraw-Hill, New York, 1995
    • (1995) The Metabolic and Molecular Bases of Inherited Disease , vol.2 , pp. 1933-1951
    • Glomset, J.A.1    Assmann, G.2    Gjone, E.3    Norum, K.R.4
  • 6
    • 0026161714 scopus 로고
    • Lecithin cholesterol acyltransferase deficiency: Ultrastructural examination of sequential renal biopsies
    • Lager DJ, Rosenberg BF, Shapino H, Bernstein J: Lecithin cholesterol acyltransferase deficiency: Ultrastructural examination of sequential renal biopsies. Modern Pathology, 1991; 14: 331-335
    • (1991) Modern Pathology , vol.14 , pp. 331-335
    • Lager, D.J.1    Rosenberg, B.F.2    Shapino, H.3    Bernstein, J.4
  • 7
    • 0001912412 scopus 로고    scopus 로고
    • Lecithin cholesterol acyltransferase deficiency and fish eye disease
    • In: Scriver CR, Beaudet AL, Sly WS, Valle D, New York: McGraw-Hill
    • Santamarina-Fojo S, Hoeg JM, Assman G, Brewer HB Jr.: Lecithin cholesterol acyltransferase deficiency and fish eye disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The Metabolic and Molecular Basis of Inherited Disease. New York: McGraw-Hill; 2001; pp2817-2833
    • (2001) The Metabolic and Molecular Basis of Inherited Disease , pp. 2817-2833
    • Santamarina-Fojo, S.1    Hoeg, J.M.2    Assman, G.3    Brewer Jr., H.B.4
  • 8
    • 0020462683 scopus 로고
    • Renal failure in familial lecithin: Cholesterol acyltransferase deficiency
    • Borysiewicz LK, Soutar AK, Evans DJ, Thompson GR, Rees J: Renal failure in familial lecithin: cholesterol acyltransferase deficiency. Q J Med, 1982; 182; 51: 411-426
    • (1982) Q J Med , vol.182 , Issue.51 , pp. 411-426
    • Borysiewicz, L.K.1    Soutar, A.K.2    Evans, D.J.3    Thompson, G.R.4    Rees, J.5
  • 11
    • 0024836893 scopus 로고
    • Hirata Y A new case of familial lecithin: Cholesterol acyltransferase (LCAT) deficiency-Paradoxical findings regarding LCAT mass and activity in 23 members of family
    • Takata K, Kajiyama G, Horiuchi I, Watanabe T, Tokumo H, Hirata Y A new case of familial lecithin: cholesterol acyltransferase (LCAT) deficiency-Paradoxical findings regarding LCAT mass and activity in 23 members of family. Jpn J Med, 1989; 28: 765-771
    • (1989) Jpn J Med , vol.28 , pp. 765-771
    • Takata, K.1    Kajiyama, G.2    Horiuchi, I.3    Watanabe, T.4    Tokumo, H.5
  • 13
    • 0028997524 scopus 로고
    • A single G to A nucleotide transition in exon IV of the lecithin: Cholesterol acyltransferase (LCAT) gene results in an Arg to His substitution and causes LCAT deficiency
    • Steyrer E, Haubenwallner S, Hörl G, GieBauf W, Kostner G.M, Zechner R: A single G to A nucleotide transition in exon IV of the lecithin: cholesterol acyltransferase (LCAT) gene results in an Arg to His substitution and causes LCAT deficiency. Hum Genet, 1995; 96: 105-109
    • (1995) Hum Genet , vol.96 , pp. 105-109
    • Steyrer, E.1    Haubenwallner, S.2    Hörl, G.3    Giebauf, W.4    Kostner, G.M.5    Zechner, R.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.