Gene for Von Recklinghausen Neurofibromatosis is in the Pericentromeric Region of Chromosome 17

Overview

Journal Science

Specialty Science

Date 1987 May 29

PMID 3107130

Citations 155

Authors

D Barker

E Wright

K Nguyen

L Cannon

P Fain

D Goldgar

D T Bishop

J Carey

B Baty

J Kivlin

Affiliations

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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.

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