Gene rearrangement on 1q21 introducing a duplication of the glucocerebrosidase pseudogene and a metaxin fusion gene

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

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

Metaxin Is a Component of a Preprotein Import Complex in the Outer Membrane of the Mammalian Mitochondrion

Lucas C. Armstrong, Tohru Komiya, Bradford E. Bergman et al. · Journal of Biological Chemistry · 1997 · 137 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +14

A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder.

Ari Zimran, Joseph A. Sorge, E A Gross et al. · Journal of Clinical Investigation · 1990 · 122 citations · Full text

Life Sciences, Genetics, Molecular Biology +14