Three NewBLMGene Mutations Associated with Bloom Syndrome-Reference-Cited by-同舟云学术

Three NewBLMGene Mutations Associated with Bloom Syndrome

Published:2008-06 Issue:2 Volume:12 Page:257-261
ISSN:1090-6576
Container-title:Genetic Testing
language:en
Short-container-title:Genetic Testing

Author:

Amor-Guéret Mounira¹²,Dubois-d'Enghien Catherine³,Laugé Anthony³,Onclercq-Delic Rosine¹²,Barakat Abdelhamid⁴,Chadli Elbekkay⁴,Bousfiha Ahmed Aziz⁵,Benjelloun Meriem⁵,Flori Elisabeth⁶,Doray Bérénice⁷,Laugel Vincent⁸,Lourenço Maria Teresa⁹,Gonçalves Rui⁹,Sousa Silvia¹⁰,Couturier Jérôme³¹¹,Stoppa-Lyonnet Dominique³¹¹

Affiliation:

1. Institut Curie, Centre de Recherche, Orsay, France.

2. CNRS, UMR2027, Orsay, France.

3. Institut Curie, Hôpital, Service de Génétique Oncologique, Paris France.

4. Institut Pasteur du Maroc, Service de Génétique, Casablanca, Morocco.

5. CHU Ibn Rochd, Unité d'Immunologie Clinique du Service de Pédiatrie, 1, Casablanca, Morocco.

6. Service de Cytogénétique, Hôpital de Hautepierre, Strasbourg Cedex, France.

7. Service de Génétique Médicale, Hôpital de Hautepierre, Strasbourg Cedex, France.

8. Service de Pédiatrie 1, CHU Strasbourg-Hautepierre, Strasbourg Cedex, France.

9. Serviço de Genetica Médica, Hospital de Dona Estefania, Lisboa, Portugal.

10. Serviço de Medicina II, Hospital de Egas Moniz, Lisboa, Portugal.

11. INSERM, U380, Paris, France.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical)

Link

http://www.liebertpub.com/doi/pdf/10.1089/gte.2007.0119

Reference16 articles.

1. Bloom syndrome, genomic instability and cancer: the SOS-like hypothesis

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

3. Stage-specific apoptosis, developmental delay, and embryonic lethality in mice homozygous for a targeted disruption in the murine Bloom’s syndrome gene

4. The Bloom's syndrome gene product is homologous to RecQ helicases

5. Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome

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