Reports

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

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Science  29 May 1987:
Vol. 236, Issue 4805, pp. 1100-1102
DOI: 10.1126/science.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.

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