Two novel mutations in exons 19a and 20 and a BsaI polymorphism in a newly characterized intron of the neurofibromatosis type 1 gene
β Scribed by Anja Klose; Peter Nicholas Robinson; Andreas Gewies; Lan Kluwe; Dieter Kaufmann; Annegret Buske; Sigrid Tinschert; H. Peters
- Publisher
- Springer
- Year
- 1998
- Tongue
- English
- Weight
- 135 KB
- Volume
- 102
- Category
- Article
- ISSN
- 0340-6717
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Neurofibromatosis type 1 is a clinically variable disorder caused mostly by small mutations within the NF1 gene on chromosome 17q11.2. We used Single Strand Conformation Polymorphism (SSCP) and radioactive sequencing to screen NF1 exons 28 and 29 from 118 unrelated patients, diagnosed with NF1 accor
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