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: Journal of medical genetics
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
Journal of medical genetics
DOI
EISSN
1468-6244
ISSN
0022-2593
Publication Date
December 1990
Volume
27
Issue
12
Start / End Page
738 / 741
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. Journal of Medical Genetics, 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.” Journal of Medical Genetics 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. Journal of medical genetics. 1990 Dec;27(12):738–41.
Upadhyaya, M., et al. “A 90 kb DNA deletion associated with neurofibromatosis type 1.” Journal of Medical Genetics, vol. 27, no. 12, Dec. 1990, pp. 738–41. Epmc, 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. Journal of medical genetics. 1990 Dec;27(12):738–741.
Published In
Journal of medical genetics
DOI
EISSN
1468-6244
ISSN
0022-2593
Publication Date
December 1990
Volume
27
Issue
12
Start / End Page
738 / 741
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