V. Regnier et al., A TSP509I VARIANT IN EXON-13 OF THE NEUROFIBROMATOSIS TYPE-1 (NF1) GENE ALLOWS THE IDENTIFICATION OF BOTH ALLELES AT THE MESSENGER-RNA LEVEL, Human genetics, 96(1), 1995, pp. 131-132
We describe here a new sequence variant occurring in the coding region
of the neurofibromatosis (NF1) gene (exon 13). This exonic polymorphi
sm 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 expressi
on levels.