PMID 12694237 2003 The R608del mutation in the acid sphingomyelinase gene (SMPD1) is the most prevalent among patients from Gran Canaria Island with Niemann-Pick disease type B.
PMID 1885770 1991 Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients.
PMID 18815062 2008 Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models.
PMID 8225311 1993 Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa.
rs120074118 in
SMPD1 gene and
Niemann-Pick Disease, Type B
PMID 21502868 2011 Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals.
PMID 8225311 1993 Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa.
PMID 19405096 2009 Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients.
PMID 12694237 2003 The R608del mutation in the acid sphingomyelinase gene (SMPD1) is the most prevalent among patients from Gran Canaria Island with Niemann-Pick disease type B.
PMID 18815062 2008 Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models.
PMID 1885770 1991 Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients.
rs120074118 in
SMPD1 gene and
Niemann-Pick Diseases
PMID 15545621 2004 The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study.
PMID 12694237 2003 The R608del mutation in the acid sphingomyelinase gene (SMPD1) is the most prevalent among patients from Gran Canaria Island with Niemann-Pick disease type B.