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Human Genetics
Volumn 112, Issue 4, 2003, Pages 426-429
Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 RecNciI alleles in Gaucher disease patients
Author keywords

[No Author keywords available]
Indexed keywords

GENE PRODUCT; GLUCOSYLCERAMIDASE; METAXIN; UNCLASSIFIED DRUG; MTX1 PROTEIN, HUMAN; PROTEIN;
EID: 0038823939     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0894-0     Document Type: Article
Times cited : (4)
References (8)
  • 1
    • 0031968178 scopus 로고    scopus 로고
    • Molecular analysis and clinical findings in the Spanish Gaucher disease population: Putative haplotype of the N370S ancestral chromosome
    • Cormand B, Grinberg D, Gort L, Chabás A, Vilageliu L (1998a) Molecular analysis and clinical findings in the Spanish Gaucher disease population: Putative haplotype of the N370S ancestral chromosome. Hum Mutat 11:295-305
    • (1998) Hum Mutat , vol.11 , pp. 295-305
    • Cormand, B.1    Grinberg, D.2    Gort, L.3    Chabás, A.4    Vilageliu, L.5
  • 3
    • 0034908554 scopus 로고    scopus 로고
    • Nomenclature for the description of human sequence variations
    • Den Dunnen JT, Antonarakis SE (2001) Nomenclature for the description of human sequence variations. Hum Genet 109:121-124
    • (2001) Hum Genet , vol.109 , pp. 121-124
    • Den Dunnen, J.T.1    Antonarakis, S.E.2
  • 4
    • 0033047657 scopus 로고    scopus 로고
    • Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease
    • Lau EK, Tayebi N, Ingraham LJ, Winfield SL, Koprovica V, Stone DL, Zimran A, Ginns EI, Sidransky E (1999) Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease. Hum Genet 104:293-300
    • (1999) Hum Genet , vol.104 , pp. 293-300
    • Lau, E.K.1    Tayebi, N.2    Ingraham, L.J.3    Winfield, S.L.4    Koprovica, V.5    Stone, D.L.6    Zimran, A.7    Ginns, E.I.8    Sidransky, E.9
  • 6
    • 0035206698 scopus 로고    scopus 로고
    • New insights into the origin of the Gaucher disease-causing mutation N370S: Extended haplotype analysis using the 5GC3.2, 5470 G/A, and ITG6.2 polymorphisms
    • Rodríguez-Marí A, Díaz-Font A, Chabás A, Pastores GM, Grinberg D, Vilageliu L (2001) New insights into the origin of the Gaucher disease-causing mutation N370S: Extended haplotype analysis using the 5GC3.2, 5470 G/A, and ITG6.2 polymorphisms. Blood Cells Mol Dis 27:950-959
    • (2001) Blood Cells Mol Dis , vol.27 , pp. 950-959
    • Rodríguez-Marí, A.1    Díaz-Font, A.2    Chabás, A.3    Pastores, G.M.4    Grinberg, D.5    Vilageliu, L.6
  • 7
    • 0033623630 scopus 로고    scopus 로고
    • Gene rearrangement on 1q21 introducing a duplication of the glucocerebrosidase pseudogene and a metaxin fusion gene
    • Tayebi N, Park J, Madike V, Sidransky E (2000) Gene rearrangement on 1q21 introducing a duplication of the glucocerebrosidase pseudogene and a metaxin fusion gene. Hum Genet 107:400-403
    • (2000) Hum Genet , vol.107 , pp. 400-403
    • Tayebi, N.1    Park, J.2    Madike, V.3    Sidransky, E.4
  • 8
    • 0025101234 scopus 로고
    • A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder
    • Zimran A, Sorge J, Gross E, Kubitz M, West C, Beutler E (1990) A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder. J Clin Invest 85:219-222
    • (1990) J Clin Invest , vol.85 , pp. 219-222
    • Zimran, A.1    Sorge, J.2    Gross, E.3    Kubitz, M.4    West, C.5    Beutler, E.6

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.