Hematologically Important Mutations: Gaucher Disease

Recommendations for a nomenclature system for human gene mutations

Stylianos E. Antonarakis · Human Mutation · 1998 · 939 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

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

Analysis and Classification of 304 Mutant Alleles in Patients with Type 1 and Type 3 Gaucher Disease

Vuk Koprivica, Deborah L. Stone, Joseph K. Park et al. · The American Journal of Human Genetics · 2000 · 334 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA.

Joseph A. Sorge, Carol West, Beryl Westwood et al. · Proceedings of the National Academy of Sciences · 1985 · 212 citations · Full text

Life Sciences, Genetics, Molecular Biology +14