Gene for von Recklinghausen Neurofibromatosis Is in the Pericentromeric Region of Chromosome 17
David Barker(University of Utah), E Wright(University of Utah), K. Nguyen(University of Utah), Lisa A. Cannon(University of Utah), Pamela R. Fain(University of Utah), D. Goldgar(University of Utah), D. Timothy Bishop(University of Utah), John C. Carey(University of Utah), Bonnie Jeanne Baty(University of Utah), J. Kivlin(University of Utah), H.F. Willard(University of Toronto), John S. Waye(University of Toronto), Gillian Greig(University of Toronto), Leslie A. Leinwand(Albert Einstein College of Medicine), Yusuke Nakamura(Howard Hughes Medical Institute), P. O’Connell(Howard Hughes Medical Institute), M. Leppert(Howard Hughes Medical Institute), Jean-Marc Lalouel(Howard Hughes Medical Institute), R. White(Howard Hughes Medical Institute), Mark H. Skolnick(University of Utah)
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Abstract
Linkage analysis of 15 Utah kindreds demonstrated that a gene responsible for von Recklinghausen neurofibromatosis (NF) is located near the centromere on chromosome 17. The families also gave no evidence for heterogeneity, indicating that a significant proportion of NF cases are due to mutations at a single locus. Further genetic analysis can now refine this localization and may lead to the eventual identification and cloning of the defective gene responsible for this disorder.
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