التفاصيل البيبلوغرافية
| العنوان: |
Recurrence and variability of germline EPCAM deletions in Lynch syndrome. |
| المؤلفون: |
Kuiper, Roland P., Vissers, Lisenka E. L. M., Venkatachalam, Ramprasath, Bodmer, Danielle, Hoenselaar, Eveline, Goossens, Monique, Haufe, Aline, Kamping, Eveline, Niessen, Renée C., Hogervorst, Frans B. L., Gille, Johan J. P., Redeker, Bert, Tops, Carli M. J., van Gijn, Marielle E., van den Ouweland, Ans M.W., Rahner, Nils, Steinke, Verena, Kahl, Philip, Holinski-Feder, Elke, Morak, Monika |
| المصدر: |
Human Mutation; Apr2011, Vol. 32 Issue 4, p407-414, 8p, 2 Diagrams, 2 Charts |
| مصطلحات موضوعية: |
GENES, LYNCH syndrome II, EPITHELIAL cells |
| مصطلحات جغرافية: |
NETHERLANDS, UNITED States, GERMANY |
| مستخلص: |
The article discusses a study on the role of 3' end EPCAM gene deletions in Lynch syndrome. The study involved 45 independent Lynch syndrome families from several countries including the Netherlands, Germany and the U.S. EPCAM deletions were identified in 27 families. The study found that methylation of the MSH2 gene promoter occurred in epithelial tissues of all carriers of EPCAM deletion. Alu-repeat mediated recombination events seemed to be the origin of all deletions based on analysis. |
| قاعدة البيانات: |
Complementary Index |
