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Volumn 80, Issue 3, 2006, Pages 308-309

Frequency of the deletion polymorphism of DNASE1L1 in 137 patients with acid maltase deficiency (Pompe disease)

Author keywords

[No Author keywords available]

Indexed keywords

DEOXYRIBONUCLEASE 1L1; DEOXYRIBONUCLEASE I; GLUCAN 1,4 ALPHA GLUCOSIDASE; UNCLASSIFIED DRUG;

EID: 33646695240     PISSN: 00144800     EISSN: 10960945     Source Type: Journal    
DOI: 10.1016/j.yexmp.2006.02.003     Document Type: Letter
Times cited : (6)

References (5)
  • 1
    • 0000995321 scopus 로고    scopus 로고
    • Glycogen storage disease type II: acid α-glucosidase (acid maltase) deficiency
    • Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds), Medical Publishing Division, McGraw-Hill
    • Hirschhorn R., and Reuser A.J.J. Glycogen storage disease type II: acid α-glucosidase (acid maltase) deficiency. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The Metabolic and Molecular Bases of Inherited Disease (2001), Medical Publishing Division, McGraw-Hill 3389-3418
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3389-3418
    • Hirschhorn, R.1    Reuser, A.J.J.2
  • 2
    • 0032793953 scopus 로고    scopus 로고
    • Molecular characterization of a novel endonuclease (Xib) and possible involvement in lysosomal glycogen storage disorders
    • Malferrari G., Mazza U., Tresoldi C., Rovida E., Nissim M., Mirabella M., Servidei S., and Biunno I. Molecular characterization of a novel endonuclease (Xib) and possible involvement in lysosomal glycogen storage disorders. Exp. Mol. Pathol. 66 (1999) 123-130
    • (1999) Exp. Mol. Pathol. , vol.66 , pp. 123-130
    • Malferrari, G.1    Mazza, U.2    Tresoldi, C.3    Rovida, E.4    Nissim, M.5    Mirabella, M.6    Servidei, S.7    Biunno, I.8
  • 3
    • 0035571665 scopus 로고    scopus 로고
    • Deletion polymorphism of DNASE1L1, an X-linked Dnase I-like gene, in acid maltase deficiency disorders
    • Malferrari G., Mirabella M., D'Alessandra Y., Servidei S., and Biunno I. Deletion polymorphism of DNASE1L1, an X-linked Dnase I-like gene, in acid maltase deficiency disorders. Exp. Mol. Pathol. 70 (2001) 173-174
    • (2001) Exp. Mol. Pathol. , vol.70 , pp. 173-174
    • Malferrari, G.1    Mirabella, M.2    D'Alessandra, Y.3    Servidei, S.4    Biunno, I.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.