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Volumn 97, Issue 2, 1996, Pages 265-267

A missense mutation (Thr-6Pro) in the lysosomal acid lipase (LAL) gene is present with a high frequency in three different ethnic populations: Impact on serum lipoprotein concentrations

Author keywords

[No Author keywords available]

Indexed keywords

ACID LIPASE; LIPOPROTEIN;

EID: 0030067068     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02265280     Document Type: Article
Times cited : (10)

References (10)
  • 1
    • 0027954965 scopus 로고
    • Purification, characterization and molecular cloning of human hepatic lysosomal acid lipase
    • Ameis D, Merkel M, Eckerskorn C, Greten H (1994) Purification, characterization and molecular cloning of human hepatic lysosomal acid lipase. Eur J Biochem 219:905-914
    • (1994) Eur J Biochem , vol.219 , pp. 905-914
    • Ameis, D.1    Merkel, M.2    Eckerskorn, C.3    Greten, H.4
  • 2
    • 0025791980 scopus 로고
    • Cloning and expression of cDNA encoding human lysosomal acid lipase/cholesterol ester hydrolase
    • Anderson RA, Sando GN (1991) Cloning and expression of cDNA encoding human lysosomal acid lipase/cholesterol ester hydrolase. J Biol Chem 266:22479-22484
    • (1991) J Biol Chem , vol.266 , pp. 22479-22484
    • Anderson, R.A.1    Sando, G.N.2
  • 3
    • 0027478365 scopus 로고
    • In situ localization of the genetic locus encoding the lysosomal acid lipase/cholesterol esterase (LIPA) deficient in Wolman disease to chromosome 10q23.2-q23.3
    • Anderson RA, Rao N, Byrum RS, Rothshild CB, Bowden DW, Hayworth R, Pettenati M (1993) In situ localization of the genetic locus encoding the lysosomal acid lipase/cholesterol esterase (LIPA) deficient in Wolman disease to chromosome 10q23.2-q23.3. Genomics 15:245-247
    • (1993) Genomics , vol.15 , pp. 245-247
    • Anderson, R.A.1    Rao, N.2    Byrum, R.S.3    Rothshild, C.B.4    Bowden, D.W.5    Hayworth, R.6    Pettenati, M.7
  • 4
    • 23444460383 scopus 로고
    • Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease
    • Anderson RA, Byrum RS, Coates PM, Sando GN (1994) Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. Proc Natl Acad Sci USA 91:2718-2722
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 2718-2722
    • Anderson, R.A.1    Byrum, R.S.2    Coates, P.M.3    Sando, G.N.4
  • 5
    • 0002416162 scopus 로고
    • Acid lipase deficiency: Wolman disease and cholesterol ester storage disease
    • Scnver CR, Beaudet AL, Sly WS, Valle D (eds). McGraw-Hill, New York
    • Assmann G, Seedorf U (1995) Acid lipase deficiency: Wolman disease and cholesterol ester storage disease. In: Scnver CR, Beaudet AL, Sly WS, Valle D (eds). The metabolic and molecular basis of inherited disease. 7th edn. McGraw-Hill, New York, pp 2563-2587
    • (1995) The Metabolic and Molecular Basis of Inherited Disease. 7th Edn. , pp. 2563-2587
    • Assmann, G.1    Seedorf, U.2
  • 6
  • 7
    • 0027131856 scopus 로고
    • A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storaae disease
    • Klima H, Ullrich K, Aslanidis C, Fehringer P, Lackner KJ, Schmilz G (1993) A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storaae disease. J Clin Invest 92: 2713-2718
    • (1993) J Clin Invest , vol.92 , pp. 2713-2718
    • Klima, H.1    Ullrich, K.2    Aslanidis, C.3    Fehringer, P.4    Lackner, K.J.5    Schmilz, G.6
  • 8
    • 0014409340 scopus 로고
    • Lysosomal lipases of rat liver and kidney
    • Mahadevan S, Tappel AL (1968) Lysosomal lipases of rat liver and kidney. J Biol Chem 243:2849-2854
    • (1968) J Biol Chem , vol.243 , pp. 2849-2854
    • Mahadevan, S.1    Tappel, A.L.2
  • 9
    • 0027259126 scopus 로고
    • Mutagenically separated PCR (MS-PCR): A high specific one step procedure for easy mutation detection
    • Rust S, Funke H, Assmann G (1993) Mutagenically separated PCR (MS-PCR): a high specific one step procedure for easy mutation detection. Nucleic Acids Res 21:3623-3629
    • (1993) Nucleic Acids Res , vol.21 , pp. 3623-3629
    • Rust, S.1    Funke, H.2    Assmann, G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.