A Clinical Variant of Neurofibromatosis Type 1: Familial Spinal Neurofibromatosis with a Frameshift Mutation in the NF1 Gene
✍ Scribed by Elisabet Ars; Helena Kruyer; Antonia Gaona; Pilar Casquero; Jordi Rosell; Víctor Volpini; Eduard Serra; Conxi Lázaro; Xavier Estivill
- Book ID
- 117852366
- Publisher
- American Society of Human Genetics
- Year
- 1998
- Tongue
- English
- Weight
- 310 KB
- Volume
- 62
- Category
- Article
- ISSN
- 0002-9297
- DOI
- 10.1086/301803
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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
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