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Volumn 100, Issue 1, 2010, Pages 100-102

False-positive results using a Gaucher diagnostic kit - RecTL and N370S

Author keywords

Allele specific oligonucleotides; Gaucher disease; Glucocerebrosidase; Molecular diagnostic kit; Parkinson disease; Recombinant allele

Indexed keywords

GLUCOSYLCERAMIDASE;

EID: 77950521539     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2009.12.017     Document Type: Article
Times cited : (9)

References (12)
  • 1
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    • Gaucher PCE, On primary epithelioma of the spleen: idiopathic hypertrophy of the spleen without leukemia, Thesis, Doctor of Medicine Paris, Octave Doin, 1882.
    • Gaucher PCE, On primary epithelioma of the spleen: idiopathic hypertrophy of the spleen without leukemia, Thesis, Doctor of Medicine Paris, Octave Doin, 1882.
  • 3
    • 42949118684 scopus 로고    scopus 로고
    • Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)
    • Hruska K.S., LaMarca M.E., Scott C.R., and Sidransky E. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum. Mutat. 29 5 (2008) 567-583
    • (2008) Hum. Mutat. , vol.29 , Issue.5 , pp. 567-583
    • Hruska, K.S.1    LaMarca, M.E.2    Scott, C.R.3    Sidransky, E.4
  • 4
    • 0025831078 scopus 로고
    • Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state
    • Beutler E., Gelbart T., Kuhl W., Sorge J., and West C. Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state. Proc. Natl. Acad. Sci. USA 88 23 (1991) 10544-10547
    • (1991) Proc. Natl. Acad. Sci. USA , vol.88 , Issue.23 , pp. 10544-10547
    • Beutler, E.1    Gelbart, T.2    Kuhl, W.3    Sorge, J.4    West, C.5
  • 8
    • 0027142758 scopus 로고
    • Non-radioisotopic typing of human leukocyte antigen class II genes on microplates
    • Giorda R., Lampasona V., Kocova M., and Trucco M. Non-radioisotopic typing of human leukocyte antigen class II genes on microplates. Biotechniques 15 5 (1993) 918-925
    • (1993) Biotechniques , vol.15 , Issue.5 , pp. 918-925
    • Giorda, R.1    Lampasona, V.2    Kocova, M.3    Trucco, M.4
  • 11
    • 0028348926 scopus 로고
    • RecTL: a complex allele of the glucocerebrosidase gene associated with a mild clinical course of Gaucher disease
    • Zimran A., and Horowitz M. RecTL: a complex allele of the glucocerebrosidase gene associated with a mild clinical course of Gaucher disease. Am. J. Med. Genet. 50 1 (1994) 74-78
    • (1994) Am. J. Med. Genet. , vol.50 , Issue.1 , pp. 74-78
    • Zimran, A.1    Horowitz, M.2
  • 12
    • 0037371235 scopus 로고    scopus 로고
    • Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease
    • Tayebi N., Stubblefield B.K., Park J.K., Orvisky E., Walker J.M., LaMarca M.E., and Sidransky E. Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease. Am. J. Hum. Genet. 72 3 (2003) 519-534
    • (2003) Am. J. Hum. Genet. , vol.72 , Issue.3 , pp. 519-534
    • Tayebi, N.1    Stubblefield, B.K.2    Park, J.K.3    Orvisky, E.4    Walker, J.M.5    LaMarca, M.E.6    Sidransky, E.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.