W131 Detection of compound heterozygotes for GAA expansion & a frataxin gene (FXN) point mutation in patients with friedreich’s ataxia

A. Pagdhune, A. Dalal, M. M; Clinica Chimica Acta, Volume 530, Supplement 1, 2022, Page S341, ISSN 0009-8981, doi:10.1016/j.cca.2022.04.886.

W131 Detection of compound heterozygotes for GAA expansion & a frataxin gene (FXN) point mutation in patients with friedreich’s ataxia