A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition
- 13 April 2001
- journal article
- Published by Elsevier in Journal of Molecular Biology
- Vol. 307 (5) , 1261-1270
- https://doi.org/10.1006/jmbi.2001.4561
Abstract
No abstract availableThis publication has 42 references indexed in Scilit:
- 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 DomainAmerican Journal of Human Genetics, 2000
- Toward a Survey of Somatic Mutation of the NF1 Gene in Benign Neurofibromas of Patients with Neurofibromatosis Type 1American Journal of Human Genetics, 2000
- Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1Human Molecular Genetics, 2000
- Neurofibromatosis 1American Journal of Medical Genetics, 1999
- Neurofibromatosis type 1: A model condition for the study of the molecular basis of variable expressivity in human disordersAmerican Journal of Medical Genetics, 1999
- Neurofibromatosis Type 1: Piecing the Puzzle TogetherCanadian Journal of Neurological Sciences, 1998
- Molecular genetics of neurofibromatosis type 1 (NF1).Journal of Medical Genetics, 1996
- Distribution of 13 truncating mutations in the neurofibromatosis 1 geneHuman Molecular Genetics, 1995
- Molecular basis of neurofibromatosis type 1 (NF1): Mutation analysis and polymorphisms in the NF1 geneHuman Mutation, 1994
- A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutationsPublished by Elsevier ,1990