Concepedia

R352Q mutation of the DHCR7 gene is common among Japanese Smith–Lemli–Opitz syndrome patients

Yoshiyuki Matsumoto, Ken‐ichi Morishima, Akira Honda, Shoji Watabe, Misa Yamamoto, Masayuki Hara, Masaki Hasui, Chikako Saito, T Takayanagi, Tsutomu Yamanaka,

Journal of Human Genetics · 2005 · 18 citations · 15 references

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15

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

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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

, , +17

Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene

Hans R. Waterham, Frits A. Wijburg, Raoul C. M. Hennekam et al. · The American Journal of Human Genetics · 1998 · 297 citations · Full text

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Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism

Christopher Cunniff, Lisa E. Kratz, Ann B. Moser et al. · American Journal of Medical Genetics · 1997 · 228 citations

, , +17

Molecular cloning and expression of the human Δ7-sterol reductase

Fabian F. Moebius, Barbara U. Fitzky, Joon No Lee et al. · Proceedings of the National Academy of Sciences · 1998 · 220 citations

, , +17