Gaucher disease: new molecular approaches to diagnosis and treatment.

doi:10.1126/science.1589760

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Article

Gaucher disease: new molecular approaches to diagnosis and treatment.

Science (New York, N.Y.) - 8 May 1992

Beutler E

Abstract excerpt

Gaucher disease is characterized by the accumulation of glucocerebroside, leading to enlargement of the liver and spleen and lesions in the bones. It is caused by an inherited deficiency of the enzyme glucocerebrosidase. Many mutations exist, but four of these account for over 97% of the mutation...

Topics

Amino Acid Sequence
Crossing Over, Genetic
Gaucher Disease
Gene Frequency
Glucosylceramidase
Humans
Molecular Sequence Data
Mutation

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