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. |