Recessive mutations inMCM4/PRKDCcause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair

Journal of Medical Genetics - Tập 49 Số 4 - Trang 242-245 - 2012
Jillian P. Casey1, Michael C. Nobbs2, Paul McGettigan3, Sally Ann Lynch4, Sean Ennis5
1National Children's Research Centre, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland; School of Medicine and Medical Science, University College Dublin, Belfield, Dublin, Ireland
2Bristol Genetics Laboratory, Southmead Hospital, Westbury-on-Trym, Bristol, UK
3Animal Genomics Laboratory, UCD School of Agriculture, Food Science and Veterinary Medicine, College of Life Sciences, University College Dublin, Belfield, Dublin, Ireland
4National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland
5School of Medicine and Medical Sciences, Health Sciences Centre, University College Dublin, Belfield, Dublin 4, Ireland

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Journal of Medical Genetics

Tập 49 Số 4

242-245

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