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German, James; Sanz, Maureen M; Ciocci, Susan et al. (2007) Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. Hum Mutat 28:743-53
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Ellis, N A; Ciocci, S; German, J (2001) Back mutation can produce phenotype reversion in Bloom syndrome somatic cells. Hum Genet 108:167-73
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van Brabant, A J; Ye, T; Sanz, M et al. (2000) Binding and melting of D-loops by the Bloom syndrome helicase. Biochemistry 39:14617-25
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Sanz, M M; Proytcheva, M; Ellis, N A et al. (2000) BLM, the Bloom's syndrome protein, varies during the cell cycle in its amount, distribution, and co-localization with other nuclear proteins. Cytogenet Cell Genet 91:217-23
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Yankiwski, V; Marciniak, R A; Guarente, L et al. (2000) Nuclear structure in normal and Bloom syndrome cells. Proc Natl Acad Sci U S A 97:5214-9
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Ellis, N A; Proytcheva, M; Sanz, M M et al. (1999) Transfection of BLM into cultured bloom syndrome cells reduces the sister-chromatid exchange rate toward normal. Am J Hum Genet 65:1368-74
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Neff, N F; Ellis, N A; Ye, T Z et al. (1999) The DNA helicase activity of BLM is necessary for the correction of the genomic instability of bloom syndrome cells. Mol Biol Cell 10:665-76
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Walpita, D; Plug, A W; Neff, N F et al. (1999) Bloom's syndrome protein, BLM, colocalizes with replication protein A in meiotic prophase nuclei of mammalian spermatocytes. Proc Natl Acad Sci U S A 96:5622-7
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Li, L; Eng, C; Desnick, R J et al. (1998) Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population. Mol Genet Metab 64:286-90
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