present in Gene: SMPD1
present in Chromosome: 11
Position on Chromosome: 6391622
Alleles of this Variant: C/T
rs1057517195 in
SMPD1 gene and
Niemann-Pick Disease, Type B
PMID 15877209 2005 Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study.
PMID 16642440 2006 Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease.
PMID 21454466 2011 Is active acid sphingomyelinase required for the antiproliferative response to rituximab?
PMID 17011332 2006 Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease.