(Q77299836)
Statements
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 (English)
Regis S
Filocamo M
Corsolini F
Caroli F
Keulemans JL
van Diggelen OP