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Title: Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Author: Barker D, Wright E, Nguyen K, Cannon L, Fain P, Goldgar D, Bishop DT, Carey J, Baty B, Kivlin J. Journal: Science; 1987 May 29; 236(4805):1100-2. PubMed ID: 3107130. 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.[Abstract] [Full Text] [Related] [New Search]