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Volumn 53, Issue 6, 2007, Pages 1165-1167

Novel mutation (c.G1124A) in exon 9 of the APOB gene causes aberrant splicing and familial hypobetalipoproteinemia [6]

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN B; APOLIPOPROTEIN B100; APOLIPOPROTEIN B48; CHOLESTEROL; CHYLOMICRON; LOW DENSITY LIPOPROTEIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL; TRIACYLGLYCEROL; VERY LOW DENSITY LIPOPROTEIN; VITAMIN;

EID: 34249866900     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2007.086496     Document Type: Letter
Times cited : (3)

References (4)
  • 1
    • 0001903995 scopus 로고
    • Disorders of the biogenesis and secretion of lipoproteins containing the B apolipoproteins
    • Scriver CR, Beaudat AL, Sly WS, Valle D, eds, New York: McGraw-Hill Book Co
    • Havel RJ, Kane JP. Disorders of the biogenesis and secretion of lipoproteins containing the B apolipoproteins. In: Scriver CR, Beaudat AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease. New York: McGraw-Hill Book Co., 1995:1853-86.
    • (1995) The Metabolic Basis of Inherited Disease , pp. 1853-1886
    • Havel, R.J.1    Kane, J.P.2
  • 2
    • 0028295249 scopus 로고
    • Donor splice mutation generates a lipid-associated apolipoprotein B-27.6 In a patient with homozygous hypobetalipoproteinemia
    • Talmud PJ, Krul ES, Pessah M, Gay G, Schonfeid G, Humphries SE, at al. Donor splice mutation generates a lipid-associated apolipoprotein B-27.6 In a patient with homozygous hypobetalipoproteinemia. J Lipid Res 1994;35:468-77.
    • (1994) J Lipid Res , vol.35 , pp. 468-477
    • Talmud, P.J.1    Krul, E.S.2    Pessah, M.3    Gay, G.4    Schonfeid, G.5    Humphries, S.E.6    at al7
  • 3
    • 0025255928 scopus 로고
    • Familial hypobetalipoproteinemia caused by a mutation in the apolipoprotein B gene that results in a truncated species of apolipoprotein B (B31): A unique mutation that helps to define the portion of the apolipoprotein B molecule required tar the formation of buoyant triglyceride-rich lipoproteins
    • Young SG, Hubl ST, Smith RS, Snyder SM, Terdiman JF. Familial hypobetalipoproteinemia caused by a mutation in the apolipoprotein B gene that results in a truncated species of apolipoprotein B (B31): a unique mutation that helps to define the portion of the apolipoprotein B molecule required tar the formation of buoyant triglyceride-rich lipoproteins. J Clin Invest 1990;85:933-42.
    • (1990) J Clin Invest , vol.85 , pp. 933-942
    • Young, S.G.1    Hubl, S.T.2    Smith, R.S.3    Snyder, S.M.4    Terdiman, J.F.5
  • 4
    • 0025897552 scopus 로고
    • A truncated species of apolipoprotein B (B67) in a kindred with familial hypobetalipoproteinemia
    • Welty FK, Hubl ST, Pierotti VR, Young SG. A truncated species of apolipoprotein B (B67) in a kindred with familial hypobetalipoproteinemia. J Clin Invest 1991;87:1748-54.
    • (1991) J Clin Invest , vol.87 , pp. 1748-1754
    • Welty, F.K.1    Hubl, S.T.2    Pierotti, V.R.3    Young, S.G.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.