Condition: Metachromatic Leukodystrophy due to Saposin B Deficiency
rs121918103 in
PSAP gene and
Metachromatic Leukodystrophy due to Saposin B Deficiency
PMID 2320574 1990 Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect.
PMID 2302219 1990 Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy.
PMID 10682309 2000 A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD).
PMID 2019586 1991 Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease.
PMID 10196694 1999 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.
PMID 30632081 2019 Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene.