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

@article{Zelm2008GrossDI,
  title={Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements.},
  author={Menno C van Zelm and Corinne Geertsema and Nicole Nieuwenhuis and Dick de Ridder and Mary Ellen Conley and Claudine Schiff and I. Tezcan and Ewa Anna Bernatowska and Nico G. Hartwig and Elisabeth A. M. Sanders and Jiř{\'i} Litzman and Irina V. Kondratenko and Jacques J M van Dongen and Mirjam van der Burg},
  journal={American journal of human genetics},
  year={2008},
  volume={82 2},
  pages={320-32}
}
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 IGHM-, BTK-, and Artemis-deficient patients. The IGHM deletion breakpoints did not… CONTINUE READING
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