Two mutations remote from an exon/intron junction in the β-hexosaminidase β-subunit gene affect 3'-splice site selection and cause Sandhoff disease
- 17 November 1998
- journal article
- Published by Springer Science and Business Media LLC in Human Genetics
- Vol. 103 (4), 462-469
- https://doi.org/10.1007/s004390050851