Study analyzed enzyme activity and intracellular localization of the products of mutant cDNAs from eleven cases of hereditary spastic paraplegia with mutation in the coding region of B4GALNT1 and noted a lack of enzyme activity in a majority of them except two family cases. Then compared profiles of clinical findings of patients with hereditary spastic paraplegia and abnormal phenotypes of B4galnt-KO mice.
We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.