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Volumn 381, Issue 2, 2008, Pages 276-278

Cryptic splice site in the complementary DNA of glucocerebrosidase causes inefficient expression

Author keywords

[No Author keywords available]

Indexed keywords

DYES;

EID: 50049093498     PISSN: 00032697     EISSN: 10960309     Source Type: Journal    
DOI: 10.1016/j.ab.2008.06.029     Document Type: Article
Times cited : (7)

References (5)
  • 1
    • 0000216808 scopus 로고    scopus 로고
    • Gaucher disease
    • Scriver R.C., Beaudet A.L., Sly W.S., and Valle D. (Eds), McGraw-Hill, New York
    • Beutler E., and Grabowski G.A. Gaucher disease. In: Scriver R.C., Beaudet A.L., Sly W.S., and Valle D. (Eds). The Metabolic and Molecular Bases of Inherited Disease (2001), McGraw-Hill, New York 3635-3668
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3635-3668
    • Beutler, E.1    Grabowski, G.A.2
  • 2
    • 4644224470 scopus 로고    scopus 로고
    • Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease
    • Schueler U.H., Kolter T., Kaneski C.R., Zirzow G.C., Sandhoff K., and Brady R.O. Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease. J. Inherit. Metab. Dis. 27 (2004) 649-658
    • (2004) J. Inherit. Metab. Dis. , vol.27 , pp. 649-658
    • Schueler, U.H.1    Kolter, T.2    Kaneski, C.R.3    Zirzow, G.C.4    Sandhoff, K.5    Brady, R.O.6
  • 3
    • 0017184389 scopus 로고
    • A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding
    • Bradford M.M. A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal. Biochem. 72 (1976) 248-254
    • (1976) Anal. Biochem. , vol.72 , pp. 248-254
    • Bradford, M.M.1
  • 4
    • 0033362752 scopus 로고    scopus 로고
    • Structure of the GM2A gene: Identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2
    • Chen B., Rigat B., Curry C., and Mahuran D.J. Structure of the GM2A gene: Identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2. Am. J. Hum. Genet. 65 (1999) 77-87
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 77-87
    • Chen, B.1    Rigat, B.2    Curry, C.3    Mahuran, D.J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.