Three New BLM Gene Mutations Associated with Bloom Syndrome
Three New BLM Gene Mutations Associated with Bloom Syndrome
About this item
Full title
Author / Creator
Amor-Guéret, Mounira , Dubois-d'Enghien, Catherine , Laugé, Anthony , Onclercq-Delic, Rosine , Barakat, Abdelhamid , Chadli, Elbekkay , Bousfiha, Ahmed Aziz , Benjelloun, Meriem , Flori, Elisabeth , Doray, Bérénice , Laugel, Vincent , Lourenço, Maria Teresa , Gonçalves, Rui , Sousa, Silvia , Couturier, Jérôme and Stoppa-Lyonnet, Dominique
Publisher
United States: Mary Ann Liebert, Inc
Journal title
Language
English
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Publication information
Publisher
United States: Mary Ann Liebert, Inc
Subjects
More information
Scope and Contents
Contents
Bloom's syndrome (BS) is a rare autosomal recessive disease predisposing patients to all types of cancers affecting the general population. BS cells display a high level of genetic instability, including a 10-fold increase in the rate of sister chromatid exchanges, currently the only objective criterion for BS diagnosis. We have developed a method...
Alternative Titles
Full title
Three New BLM Gene Mutations Associated with Bloom Syndrome
Authors, Artists and Contributors
Author / Creator
Dubois-d'Enghien, Catherine
Laugé, Anthony
Onclercq-Delic, Rosine
Barakat, Abdelhamid
Chadli, Elbekkay
Bousfiha, Ahmed Aziz
Benjelloun, Meriem
Flori, Elisabeth
Doray, Bérénice
Laugel, Vincent
Lourenço, Maria Teresa
Gonçalves, Rui
Sousa, Silvia
Couturier, Jérôme
Stoppa-Lyonnet, Dominique
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_69293100
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_69293100
Other Identifiers
ISSN
1090-6576,1945-0265
E-ISSN
1557-7473
DOI
10.1089/gte.2007.0119
