Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements.


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… (More)
DOI: 10.1016/j.ajhg.2007.10.011