Gene for von Recklinghausen Neurofibromatosis Is in the Pericentromeric Region of Chromosome 17

著者: David Barker, E Wright, K. Nguyen, Lisa A. Cannon, Pamela R. Fain, D. Goldgar, D. Timothy Bishop, John C. Carey, Bonnie Jeanne Baty, J. Kivlin, H.F. Willard, John S. Waye, Gillian Greig, Leslie A. Leinwand, Yusuke Nakamura, P. O’Connell, M. Leppert, Jean-Marc Lalouel, R. White, Mark H. Skolnick - Science 1987 被引用: 698

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.