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. 1987 May 29;236(4805):1100-2.
doi: 10.1126/science.3107130.

Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17

D Barker, E Wright, K Nguyen, L Cannon, P Fain, D Goldgar, D T Bishop, J Carey, B Baty, J Kivlin, et al.

Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17

D Barker et al. Science. .

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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