An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity
Open Access
- 30 March 1999
- journal article
- case report
- Published by Springer Nature in European Journal of Human Genetics
- Vol. 7 (2) , 125-130
- https://doi.org/10.1038/sj.ejhg.5200266
Abstract
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