Structure and distribution of an Alu-type deletion mutation in Sandhoff disease.

Por Neote, K, McInnes, B, Mahuran, D J, Gravel, R A
Publicado em 1990

An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.

Por McInnes, B, Potier, M, Wakamatsu, N, Melancon, S B, Klavins, M H, Tsuji, S, Mahuran, D J
Publicado em 1992