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Two novel mutations of the NF1 gene in Chinese Han families with type 1 neurofibromatosis

✍ Scribed by Cai, Yejun; Fan, Zhipeng; Liu, Qingjie; Li, Jingyuan; Du, Juan; Shen, Yan; Wang, Songlin


Book ID
119293067
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
161 KB
Volume
39
Category
Article
ISSN
0923-1811

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Two independent mutations in a family wi
✍ Klose, Anja; Peters, Hartmut; Hoffmeyer, Sven; Buske, Annegret; LοΏ½der, Andrea; H πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 39 KB πŸ‘ 2 views

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