Autosomal Recessive HEM/Greenberg Skeletal Dysplasia Is Caused by 3β-Hydroxysterol Δ14-Reductase Deficiency Due to Mutations in the Lamin B Receptor Gene

Episomal Vectors Rapidly and Stably Produce High-Titer Recombinant Retrovirus

Todd M. Kinsella, Garry P. Nolan · Human Gene Therapy · 1996 · 743 citations

Life Sciences, Biotechnology, Molecular Biology +14

Mutations in the Human Sterol Δ7-Reductase Gene at 11q12-13 Cause Smith-Lemli-Opitz Syndrome

Christopher A. Wassif, Cheryl L. Maslen, Stivelia Kachilele-Linjewile et al. · The American Journal of Human Genetics · 1998 · 424 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Mutations in the Δ7-sterol reductase gene in patients with the Smith–Lemli–Opitz syndrome

Barbara U. Fitzky, Martina Witsch‐Baumgartner, Martin Erdel et al. · Proceedings of the National Academy of Sciences · 1998 · 388 citations

Life Sciences, Genetics, Molecular Genetics +17

Mutations in the 3β-Hydroxysterol Δ24-Reductase Gene Cause Desmosterolosis, an Autosomal Recessive Disorder of Cholesterol Biosynthesis

Hans R. Waterham, Janet Koster, G. J. Romeijn et al. · The American Journal of Human Genetics · 2001 · 354 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger–Huët anomaly)

Katrin Hoffmann, Christine Karin Dreger, Ada L. Olins et al. · Nature Genetics · 2002 · 347 citations

Life Sciences, Genetics, Molecular Biology +8