Literature DB >> 10862105

Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome.

A Barakat1, M Ababou, R Onclercq, S Dutertre, E Chadli, N Hda, A Benslimane, M Amor-Guéret.   

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Year:  2000        PMID: 10862105     DOI: 10.1002/1098-1004(200006)15:6<584::AID-HUMU28>3.0.CO;2-I

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


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  7 in total

1.  Domain mapping of Escherichia coli RecQ defines the roles of conserved N- and C-terminal regions in the RecQ family.

Authors:  Douglas A Bernstein; James L Keck
Journal:  Nucleic Acids Res       Date:  2003-06-01       Impact factor: 16.971

Review 2.  The BLM dissolvasome in DNA replication and repair.

Authors:  Kelly A Manthei; James L Keck
Journal:  Cell Mol Life Sci       Date:  2013-03-31       Impact factor: 9.261

3.  Sgs1 truncations induce genome rearrangements but suppress detrimental effects of BLM overexpression in Saccharomyces cerevisiae.

Authors:  Hamed Mirzaei; Salahuddin Syed; Jessica Kennedy; Kristina H Schmidt
Journal:  J Mol Biol       Date:  2010-11-25       Impact factor: 5.469

4.  High-resolution structure of the E.coli RecQ helicase catalytic core.

Authors:  Douglas A Bernstein; Morgan C Zittel; James L Keck
Journal:  EMBO J       Date:  2003-10-01       Impact factor: 11.598

5.  Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM.

Authors:  Vivek M Shastri; Kristina H Schmidt
Journal:  Mol Genet Genomic Med       Date:  2015-11-26       Impact factor: 2.183

Review 6.  History of DNA Helicases.

Authors:  Robert M Brosh; Steven W Matson
Journal:  Genes (Basel)       Date:  2020-02-27       Impact factor: 4.096

7.  Structural and functional analyses of disease-causing missense mutations in Bloom syndrome protein.

Authors:  Rong-Bing Guo; Pascal Rigolet; Hua Ren; Bo Zhang; Xing-Dong Zhang; Shuo-Xing Dou; Peng-Ye Wang; Mounira Amor-Gueret; Xu Guang Xi
Journal:  Nucleic Acids Res       Date:  2007-09-18       Impact factor: 16.971

  7 in total

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