GeneticsThe American Journal of Human GeneticsPeer-reviewed
The shared ancestry between the C9orf72 hexanucleotide repeat expansion and intermediate-length alleles using haplotype sharing trees and HAPTK
Osma S. Rautila, Karri Kaivola, Harri Rautila…·Pentti J. Tienari
The paper uses haplotype sharing trees and HAPTK to show that intermediate-length C9orf72 repeat alleles share haplotypes with the hexanucleotide repeat expansion, suggesting they are potential premutation alleles.
5 citations