A 90 kb DNA deletion associated with neurofibromatosis type 1.

Journal Article (Journal Article)

A deletion of 90 kb of DNA has been identified in a patient with neurofibromatosis type 1, using pulsed field gel electrophoresis. The deletion lies between probes 17L1A and AC5 in the critical region of chromosome 17 and represents the only molecular alteration found by PFGE in a series of 90 unrelated patients. The subject showing the deletion is an isolated case, shows typical clinical features, and represents one of the first examples of a molecular deletion to be found in this disorder.

Full Text

Duke Authors

Cited Authors

  • Upadhyaya, M; Cheryson, A; Broadhead, W; Fryer, A; Shaw, DJ; Huson, S; Wallace, MR; Andersen, LB; Marchuk, DA; Viskochil, D

Published Date

  • December 1990

Published In

Volume / Issue

  • 27 / 12

Start / End Page

  • 738 - 741

PubMed ID

  • 2127432

Pubmed Central ID

  • PMC1017276

International Standard Serial Number (ISSN)

  • 0022-2593

Digital Object Identifier (DOI)

  • 10.1136/jmg.27.12.738


  • eng

Conference Location

  • England