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Identification of the NF1 gene mutation in Korean families with neurofibromatosis type 1

✍ Scribed by Yong Hwa Jo, Hye Ok Kim, Hae-Ryong Song, Kyung-Sik Yoon


Book ID
120968563
Publisher
The Genetics Society of Korea
Year
2013
Tongue
English
Weight
276 KB
Volume
36
Category
Article
ISSN
1976-9571

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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