Article
Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements.
American journal of human genetics - 1 Feb 2008
van Zelm Menno C, Geertsema Corinne, Nieuwenhuis Nicole, de Ridder Dick, Conley Mary Ellen, Schiff Claudine, Tezcan Ilhan, Bernatowska Ewa, Hartwig Nico G, Sanders Elisabeth A M, Litzman Jiri, Kondratenko Irina, van Dongen Jacques J M, van der Burg Mirjam
Abstract excerpt
Most genetic disruptions underlying human disease are microlesions, whereas gross lesions are rare with gross deletions being most frequently found (6%). Similar observations have been made in primary immunodeficiency genes, such as BTK, but for unknown reasons the IGHM and DCLRE1C (Artemis) gene defects frequently represent gross deletions ( approximately 60%). We characterized the gross deletion breakpoints in...
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