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
NLM
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