Glucocerebrosidase Mutations in Gaucher Disease

The metabolic basis of inherited disease

JL Goldstein · Medical Entomology and Zoology · 1995 · 1K citations

Life Sciences, Genetics, Molecular Genetics +13

The human glucocerebrosidase gene and pseudogene: Structure and evolution

Mia Horowitz, Sylvia Wilder, Zeev Horowitz et al. · Genomics · 1989 · 433 citations

Life Sciences, Biochemistry, Genetics +12

A Mutation in the Human Glucocerebrosidase Gene in Neuronopathic Gaucher's Disease

Shoji Tsuji, Prabhakara V. Choudary, Brian M. Martin et al. · New England Journal of Medicine · 1987 · 343 citations

Life Sciences, Genetics, Molecular Genetics +17

Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene

Victor L. J. Tybulewicz, Michel L. Tremblay, LaMarca et al. · Nature · 1992 · 306 citations

Life Sciences, Genetics, Molecular Genetics +10

Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals.

Shoji Tsuji, B M Martin, J. A. Barranger et al. · Proceedings of the National Academy of Sciences · 1988 · 188 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14