Five New Gaucher Disease Mutations

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

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

Gaucher disease: gene frequencies in the Ashkenazi Jewish population.

Ernest Beutler, N J Nguyen, M W Henneberger et al. · PubMed · 1993 · 233 citations

Life Sciences, Genetics, Molecular Genetics +12

Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant.

Dominique Weil, Michael P. Bernard, Nicholas J. Combates et al. · Journal of Biological Chemistry · 1988 · 147 citations · Full text

Life Sciences, Genetics, Molecular Biology +15

Identification of Six New Gaucher Disease Mutations

Ernest Beutler, Terri Gelbart, Carol West · Genomics · 1993 · 87 citations

Life Sciences, Genetics, Molecular Genetics +11