Characterization of a New BLM Mutation Associated with a Topoisomerase Ilα Defect in a Patient with Bloom's Syndrome

Author： Foucault Frédéric   Vaury Christelle   Barakat Abdelhamid   Thibout Déborah   Planchon Philippe   Jaulin Christian   Praz Françoise   Amor-Guéret Mounira  

Publisher： Oxford University Press

ISSN： 1460-2083

Source： Human Molecular Genetics, Vol.6, Iss.9, 1997-01, pp. : 1427-1434

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

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

By  

Molecular Genetics & Genomic Medicine, Vol. 4, Iss. 1, 2016-01 ,pp. : 106-119

John Wiley & Sons Inc

Access to resources Recommend Favorite

Characterization of lpd (lipid defect): a novel mutation on mouse chromosome 16 associated with a defect in triglyceride metabolism

By Wen X-Y.   Bryce D.M.   Breitman M.L.  

Human Molecular Genetics, Vol. 7, Iss. 4, 1998-04 ,pp. : 743-750

Oxford University Press

Access to resources Recommend Favorite

The Bloom syndrome helicase BLM interacts with TRF2 in ALT cells and promotes telomeric DNA synthesis

By Stavropoulos Dimitrios J.  

Human Molecular Genetics, Vol. 11, Iss. 25, 2002-12 ,pp. : 3135-3144

Oxford University Press

Access to resources Recommend Favorite

Evidence for BLM and Topoisomerase IIIα interaction in genomic stability

By Pandolfi P-P.  

Human Molecular Genetics, Vol. 10, Iss. 12, 2001-06 ,pp. : 1287-1298

Oxford University Press

Access to resources Recommend Favorite

Identification of a New Mutation (L46P) in the Human NOG Gene in an Italian Patient with Symphalangism Syndrome

By  

Molecular Syndromology, Vol. 3, Iss. 1, 2012-04 ,pp. : 21-24

Karger

Access to resources Recommend Favorite