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A 90 kb DNA deletion associated with neurofibromatosis type 1.

Publication ,  Journal Article
Upadhyaya, M; Cheryson, A; Broadhead, W; Fryer, A; Shaw, DJ; Huson, S; Wallace, MR; Andersen, LB; Marchuk, DA; Viskochil, D
Published in: J Med Genet
December 1990

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.

Duke Scholars

Published In

J Med Genet

DOI

ISSN

0022-2593

Publication Date

December 1990

Volume

27

Issue

12

Start / End Page

738 / 741

Location

England

Related Subject Headings

  • Neurofibromatosis 1
  • Humans
  • Genetics & Heredity
  • Genetic Markers
  • DNA Mutational Analysis
  • Chromosomes, Human, Pair 17
  • Chromosome Mapping
  • Chromosome Deletion
  • 3202 Clinical sciences
  • 3105 Genetics
 

Citation

APA
Chicago
ICMJE
MLA
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Upadhyaya, M., Cheryson, A., Broadhead, W., Fryer, A., Shaw, D. J., Huson, S., … Viskochil, D. (1990). A 90 kb DNA deletion associated with neurofibromatosis type 1. J Med Genet, 27(12), 738–741. https://doi.org/10.1136/jmg.27.12.738
Upadhyaya, M., A. Cheryson, W. Broadhead, A. Fryer, D. J. Shaw, S. Huson, M. R. Wallace, L. B. Andersen, D. A. Marchuk, and D. Viskochil. “A 90 kb DNA deletion associated with neurofibromatosis type 1.J Med Genet 27, no. 12 (December 1990): 738–41. https://doi.org/10.1136/jmg.27.12.738.
Upadhyaya M, Cheryson A, Broadhead W, Fryer A, Shaw DJ, Huson S, et al. A 90 kb DNA deletion associated with neurofibromatosis type 1. J Med Genet. 1990 Dec;27(12):738–41.
Upadhyaya, M., et al. “A 90 kb DNA deletion associated with neurofibromatosis type 1.J Med Genet, vol. 27, no. 12, Dec. 1990, pp. 738–41. Pubmed, doi:10.1136/jmg.27.12.738.
Upadhyaya M, Cheryson A, Broadhead W, Fryer A, Shaw DJ, Huson S, Wallace MR, Andersen LB, Marchuk DA, Viskochil D. A 90 kb DNA deletion associated with neurofibromatosis type 1. J Med Genet. 1990 Dec;27(12):738–741.

Published In

J Med Genet

DOI

ISSN

0022-2593

Publication Date

December 1990

Volume

27

Issue

12

Start / End Page

738 / 741

Location

England

Related Subject Headings

  • Neurofibromatosis 1
  • Humans
  • Genetics & Heredity
  • Genetic Markers
  • DNA Mutational Analysis
  • Chromosomes, Human, Pair 17
  • Chromosome Mapping
  • Chromosome Deletion
  • 3202 Clinical sciences
  • 3105 Genetics