Mutation in Brief
Free Access
Identification of an insertion and accompanying deletion in exon 31 of the neurofibromatosis type 1 gene
Dr. Gary R. Skuse,
Corresponding Author
Dr. Gary R. Skuse
University of Rochester School of Medicine and Dentistry, Department of Medicine, Division of Genetics, and Cancer Center, Rochester, New York 14642
University of Rochester School of Medicine and Dentistry, Department of Medicine, Division of Genetics, and Cancer Center, Rochester, New York 14642Search for more papers by this authorDr. Gary R. Skuse,
Corresponding Author
Dr. Gary R. Skuse
University of Rochester School of Medicine and Dentistry, Department of Medicine, Division of Genetics, and Cancer Center, Rochester, New York 14642
University of Rochester School of Medicine and Dentistry, Department of Medicine, Division of Genetics, and Cancer Center, Rochester, New York 14642Search for more papers by this authorFirst published: 28 April 2011

References
- Ballester R, Marchuk D, Boguski M, Saulino A, Letcher R, Wigler M, Collins FS (1990) The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins. Cell 63: 851–859.
- Cawthon RM, Weiss R, Xu G, Viskochil D, Culver M, Stevens J, Robertson M, Dunn D, Gesteland R, O'Connell P, White R (1990) A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell 62: 193–201.
- Crowe FW, Schull WJ, Neel JV (1956) A Clinical, Pathological, and Genetic Study of Multiple Neurofibromatosis. Springfield, IL: Charles C Thomas, pp 142–146.
- Genetics Computer Group, Inc. (1991) Program Manual for the GCG Package, version 7, April 1991 (Madison, WI).
- Huson SM, Compston DAS, Clark P, Harper PS (1989) A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severeity. J Med Genet 26: 704–711.
- Li Y, O'Connell P, Breidenbach HH, Cawthon R, Stevens J, Xu G, Neil S, Robertson M, White R, Viskochil D (1995) Genomic organization of the neurofibromatosis 1 gene (NF1). Genomics 25: 9–18.
- Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T (1989a) Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 86: 2766–2770.
- Orita M, Suzuki Y, Sekiya T, Hayashi K (1989b) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5: 874–879.
- Riccardi VM, Eichner JE (1986) Neurofibromatosis: Phenotype, Natural History, and Pathogenesis. Baltimore: Johns Hopkins University Press, pp 214–226.
- Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 74: 5463–5467.
- Skuse GP, (1990) Technical comment. Science 250: 1749.
- Skuse GR, Kosciolek BA, Rowley PT (1989) Molecular genetic analysis of tumors in von Recklinghausen neurofibromatosis: Loss of heterozygosity for chromosome 17. Genes Chromosom Cancer 1: 36–41.
- Sommer SS, Ketterling RP, (1993) A postulated mechanism for deletions with inversions. Am J Hum Genet 52: 1016–1018.
- Viskochil D, White R, Cawthon R (1993) The neurofibromatosis type 1 gene. Annu Rev Neurosci 16: 183–205.
- Xu G, O'Connell P, Viskochil D, Cawthon R, Robertson M, Culver M, Dunn D, Stevens J, Gesteland R, White R, Weiss R (1990) The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell 62: 599–608.