Article
Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease.
Human genetics - 1 Oct 1998
Fujimaru M, Tanaka A, Choeh K, Wakamatsu N, Sakuraba H, Isshiki G
Abstract excerpt
Four unrelated Japanese patients with infantile Sandhoff disease (beta-hexosaminidase beta-subunit deficiency) have been studied for the molecular basis of their severe phenotype. Two patients had complex base substitutions; one patient was homoallelic for a triple mutation (P417L, K121R, and S25...
Topics
- Animals
- COS Cells
- Exons
- Humans
- Introns
- Mutation
- Polymorphism, Restriction Fragment Length
- RNA Splicing
- Sandhoff Disease
- Sequence Analysis, DNA
- Transfection
- beta-N-Acetylhexosaminidases