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

First Author  Barker D Year  1987
Journal  Science Volume  236
Issue  4805 Pages  1100-2
PubMed ID  3107130 Mgi Jnum  J:24079
Mgi Id  MGI:71840 Doi  10.1126/science.3107130
Citation  Barker D, et al. (1987) Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science 236(4805):1100-2
abstractText  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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