We describe here a new sequence variant occurring in the coding region of the neurofibromatosis (NF1) gene (exon 13). This exonic polymorphism can be directly investigated by simple restriction enzyme digestion of RT-PCR (reverse transcription-polymerase chain reaction) products, making it a powerful tool for examining allele-specific mRNA expression levels.
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Régnier, V., Danglot, G., Nguyen, V. et al. A Tsp509I variant in exon 13 of the neurofibromatosis type 1 (NF1) gene allows the identification of both alleles at the mRNA level. Hum Genet 96, 131–132 (1995). https://doi.org/10.1007/BF00214202
- Internal Medicine
- mRNA Expression
- mRNA Level
- Restriction Enzyme
- Metabolic Disease