Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17 - PubMed (original) (raw)

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

D Barker et al. Science. 1987.

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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