Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene
β Scribed by J Hudson; CL Wu; M Tassabehji; EM Summers; S Simon; M Super; D Donnai; N Thakker
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 70 KB
- Volume
- 9
- Category
- Article
- ISSN
- 1059-7794
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Neurofibromatosis type 1 (NF1), a genetic disorder with neuroectodermal involvement, demonstrates phenotypic overlap in some patients with Noonan syndrome (NS), ultimately resulting in the so-called neurofibromatosis-Noonan syndrome (NF-NS). A strong association of the two phenotypic traits was rece
We report a 21-year-old male with symptomatic optic glioma who does not fulfill the diagnosis of neurofibromatosis 1 (NF1) according to standard NIH criteria. Analysis of the NF1 gene revealed a recurrent mutation in exon 37 (C6792A or Y2264X). This nonsense mutation causes skipping of exon 37 durin
We report on two independent alterations of the NF1 gene in a three-generation kindred with neurofibromatosis type 1 (NF1). Using temperature gradient gel electrophoresis (TGGE) in a mutation analysis of exon 31 of the NF1 gene we detected the previously reported nonsense mutation R1947X. This Cto-T