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  • Eric Legius, Douglas A. Marchuk, Francis S. Collins, Thomas W. Glover
  • Medicine, Biology
  • Nature Genetics
  • 1993 (First Publication: 1 February 1993)
  • Individuals with neurofibromatosis type 1 (NF1) have an increased risk of developing benign and malignant tumours. The NF1 gene is thought to be a tumour suppressor gene, yet no direct proof at theExpand
  • Masashi Suzuki, Wim van Paesschen, +17 authors George Seki
  • Medicine, Biology
  • Proceedings of the National Academy of Sciences
  • 2010 (First Publication: 23 August 2010)
  • Homozygous mutations in SLC4A4, encoding the electrogenic Na+-HCO3− cotransporter NBCe1, have been known to cause proximal renal tubular acidosis (pRTA) and ocular abnormalities. In this study, weExpand
  • Elizabeth Claes, Gerry Evers-Kiebooms, +4 authors Eric Legius
  • Medicine
  • Journal of Genetic Counseling
  • 2005 (First Publication: 1 October 2005)
  • This prospective study evaluates emotional functioning and illness representations in 68 unaffected women (34 carriers/34 noncarriers) 1 year after predictive testing for BRCA1/2 mutations whenExpand