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
Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome
β Scribed by Christian Thiel; Martin Wilken; Martin Zenker; Heinrich Sticht; Raimund Fahsold; Gabriele-Charlotte Gusek-Schneider; Anita Rauch
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 143 KB
- Volume
- 149A
- Category
- Article
- ISSN
- 1552-4825
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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
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