Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease.
Schnabel, D
Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease. [electronic resource] - FEBS letters Jun 1991 - 57-9 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
0014-5793
10.1016/0014-5793(91)80760-z doi
Base Sequence
Blotting, Northern
Cells, Cultured
DNA
Exons
Female
Gaucher Disease--genetics
Glycoproteins--genetics
Humans
Molecular Sequence Data
Mutation
Phenotype
Saposins
Sphingolipid Activator Proteins
Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease. [electronic resource] - FEBS letters Jun 1991 - 57-9 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
0014-5793
10.1016/0014-5793(91)80760-z doi
Base Sequence
Blotting, Northern
Cells, Cultured
DNA
Exons
Female
Gaucher Disease--genetics
Glycoproteins--genetics
Humans
Molecular Sequence Data
Mutation
Phenotype
Saposins
Sphingolipid Activator Proteins