Gene for von Recklinghausen Neurofibromatosis Is in the Pericentromeric Region of Chromosome 17
SciencePublished 29 May 1987
David Barker, E Wright, K. Nguyen, Lisa A. Cannon, Pamela R. Fain, D. Goldgar
Citations698
SJR quartileQ1
SJR score10.42
SNIP6.62
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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.
Keywords
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