Identification of a novel BLM missense mutation (2...[Hum Mutat. 2000]

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1: Hum Mutat. 2000 Jun;15(6):584-5. Links

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

Institut Pasteur du Maroc, 1 place Abou Kacem Ez-Zahraoui, BP 120, Casablanca, Maroc.

PMID: 10862105 [PubMed - indexed for MEDLINE]

The Bloom's syndrome helicase: keeping cancer at bay.
Biologist (London). 2003 Feb; 50(1):29-33.

[Biologist (London). 2003]
Bloom's syndrome. Mapping to the point.
Nature. 1995 Dec 7; 378(6557):557-80.

[Nature. 1995]
The Bloom's syndrome gene product is homologous to RecQ helicases.
Cell. 1995 Nov 17; 83(4):655-66.

[Cell. 1995]
Review[Function of RecQ family helicases and Bloom's syndrome]
Tanpakushitsu Kakusan Koso. 2001 Jun; 46(8 Suppl):1082-8.

[Tanpakushitsu Kakusan Koso. 2001]
Review[Bloom syndrome]
Ryoikibetsu Shokogun Shirizu. 2000; (30 Pt 5):145-6.

[Ryoikibetsu Shokogun Shirizu. 2000]
» See reviews... | » See all...

Structural and functional analyses of disease-causing missense mutations in Bloom syndrome protein.
Guo RB, Rigolet P, Ren H, Zhang B, Zhang XD, Dou SX, Wang PY, Amor-Gueret M, Xi XG. Nucleic Acids Res. 2007; 35(18):6297-310. Epub 2007 Sep 18.

[Nucleic Acids Res. 2007]
High-resolution structure of the E.coli RecQ helicase catalytic core.
Bernstein DA, Zittel MC, Keck JL. EMBO J. 2003 Oct 1; 22(19):4910-21.

[EMBO J. 2003]
Domain mapping of Escherichia coli RecQ defines the roles of conserved N- and C-terminal regions in the RecQ family.
Bernstein DA, Keck JL. Nucleic Acids Res. 2003 Jun 1; 31(11):2778-85.

[Nucleic Acids Res. 2003]

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