Clinical and genetic characteristics of Korean patients with Gaucher disease

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

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

X‐ray structure of human acid‐β‐glucosidase, the defective enzyme in Gaucher disease

Hay Dvir, Michal Harel, Andrew A. McCarthy et al. · EMBO Reports · 2003 · 274 citations · Full text

Life Sciences, Biochemistry, Genetics +11

Hematologically important mutations: Gaucher disease

Ernest Beutler, Terri Gelbart, C. Ronald Scott · Blood Cells Molecules and Diseases · 2005 · 244 citations

Life Sciences, Genetics, Molecular Genetics +12

Reciprocal and Nonreciprocal Recombination at the Glucocerebrosidase Gene Region: Implications for Complexity in Gaucher Disease

Nahid Tayebi, Barbara Stubblefield, Joseph K. Park et al. · The American Journal of Human Genetics · 2003 · 118 citations · Full text

Medicine, Genetics, Molecular Genetics +13