| Identified Mutation |
394delTT; The 394delTT mutation, referred to as the “Nordic mutation,” is found at a high frequency in the countries bordering the Baltic Sea and associated waterways (Sweden, Norway, Denmark, Finland, Estonia, Russia, etc.). This mutation is associated almost exclusively with a single chromosomal haplotype, which suggests a single origin, centered in this region [Schwartz et al., Hum. Genet. 93: 157-161 (1994)]. |