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Article

A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity

23 Apr 2005

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 15856305
DOI: 10.1007/s00439-005-1288-x

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Related research

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A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activityPMID 15856305Read ↗

A rare form of Gaucher disease resulting from saposin C deficiencySemantic proximity Read ↗

Mutational analysis in a patient with a variant form of Gaucher disease caused by SAP-2 deficiencySemantic proximity Read ↗

A NOVEL ASPARTYLGLUCOSAMINURIA MUTATION IN A PATIENT WITH CO-EXISTENCE OF GAUCHER DISEASE.Semantic proximity Read ↗

Mutations causing Gaucher disease.Semantic proximity Read ↗

Gaucher disease phenotype.Semantic proximity Read ↗

The glucocerebrosidase locus in Gaucher's disease: molecular analysis of a lysosomal enzyme.Semantic proximity Read ↗

Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family.Semantic proximity Read ↗

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).Semantic proximity Read ↗

Homozygosity for a non-pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease.Semantic proximity Read ↗

Gaucher disease due to saposin C deficiency is an inherited lysosomal disease caused by rapidly degraded mutant proteins.Semantic proximity Read ↗

Identification of novel mutations in glucocerebrosidase (GBA) gene in Indian patients with gaucher disease (GD)Semantic proximity Read ↗

Type 2 gaucher disease: an expanding phenotype.Semantic proximity Read ↗

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