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Minor Lesion Mutational Spectrum of the Entire NF1 Gene Does Not Explain Its High Mutability but Points to a Functional Domain Upstream of the GAP-Related Domain.
- Source :
-
American Journal of Human Genetics . Mar2000, Vol. 66 Issue 3. 1 Diagram, 6 Charts, 5 Graphs. - Publication Year :
- 2000
-
Abstract
- Examines the mutational spectrum of the entire neurofibromatosis type 1 gene. Aberrations in the coding sequence and splice sites; Distribution of whole gene from exon 1 to exon 47; Identification of clustered missense in two genetic regions.
- Subjects :
- *GENETIC mutation
*GENETICS of neurofibromatosis
Subjects
Details
- Language :
- English
- ISSN :
- 00029297
- Volume :
- 66
- Issue :
- 3
- Database :
- Academic Search Index
- Journal :
- American Journal of Human Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 5074180
- Full Text :
- https://doi.org/10.1086/302809