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Volumn 105, Issue 3, 2012, Pages 528-529

Is E326K glucocerebrosidase a polymorphic or pathological variant?

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSYLCERAMIDASE;

EID: 84858296346     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.12.002     Document Type: Letter
Times cited : (22)

References (12)
  • 1
    • 79955424976 scopus 로고    scopus 로고
    • Gaucher disease
    • McGraw-Hill, New York, D. Valle, A.L. Beaudet, B. Vogelstein, K.W. Kinzler, S.E. Antonarakis, A. Ballabio, W.S. Sly (Eds.)
    • Grabowski G.A., Petsko G.A., Kolodny E. Gaucher disease. The Metabolic and Molecular Bases of Inherited Disease 2010, McGraw-Hill, New York. http://genetics.accessmedicine.com, D. Valle, A.L. Beaudet, B. Vogelstein, K.W. Kinzler, S.E. Antonarakis, A. Ballabio, W.S. Sly (Eds.).
    • (2010) The Metabolic and Molecular Bases of Inherited Disease
    • Grabowski, G.A.1    Petsko, G.A.2    Kolodny, E.3
  • 5
    • 80052028927 scopus 로고    scopus 로고
    • Exploring the link between glucocerebrosidase mutations and parkinsonism
    • Westbroek W., Gustafson A.M., Sidransky E. Exploring the link between glucocerebrosidase mutations and parkinsonism. Trends Mol. Med. 2011, 17:485-493.
    • (2011) Trends Mol. Med. , vol.17 , pp. 485-493
    • Westbroek, W.1    Gustafson, A.M.2    Sidransky, E.3
  • 8
    • 2642562168 scopus 로고    scopus 로고
    • Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: pathogenic changes and "modifier" polymorphisms
    • Montfort M., Chabas A., Vilageliu L., Grinberg D. Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: pathogenic changes and "modifier" polymorphisms. Hum. Mutat. 2004, 23:567-575.
    • (2004) Hum. Mutat. , vol.23 , pp. 567-575
    • Montfort, M.1    Chabas, A.2    Vilageliu, L.3    Grinberg, D.4
  • 11
    • 33646548592 scopus 로고    scopus 로고
    • Characterization of neuronopathic Gaucher disease among ethnic poles
    • Tylki-Szymañska A., Keddache M., Grabowski G.A. Characterization of neuronopathic Gaucher disease among ethnic poles. Genet. Med. 2006, 8:8-15.
    • (2006) Genet. Med. , vol.8 , pp. 8-15
    • Tylki-Szymañska, A.1    Keddache, M.2    Grabowski, G.A.3
  • 12
    • 0042632599 scopus 로고    scopus 로고
    • Gaucher's disease: identification of novel mutant alleles and genotype-phenotype relationships
    • Zhao H., Bailey L., Arnold G.L., Grabowski G.A. Gaucher's disease: identification of novel mutant alleles and genotype-phenotype relationships. Clin. Genet. 2003, 64:57-64.
    • (2003) Clin. Genet. , vol.64 , pp. 57-64
    • Zhao, H.1    Bailey, L.2    Arnold, G.L.3    Grabowski, G.A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.