Genetic Defects in Postsqualene Cholesterol Biosynthesis von Moebius, Fabian F., Fitzky, Barbara U., Glossmann, Hartmut

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Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome von Witsch-Baumgartner, M., Fitzky, B.U., Ogorelkova, M., Kraft, H.G., Moebius, F.F., Glossmann, H., Seedorf, U., Gillessen-Kaesbach, G., Hoffmann, G.F., Clayton, P., Kelley, R.I., Utermann, G.

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Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations von Witsch-Baumgartner, M, Ciara, E, Löffler, J, Menzel, H J, Seedorf, U, Burn, J, Gillessen-Kaesbach, G, Hoffmann, G F, Fitzky, B U, Mundy, H, Clayton, P, Kelley, R I, Krajewska-Walasek, M, Utermann, G

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7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome von Fitzky, B U, Moebius, F F, Asaoka, H, Waage-Baudet, H, Xu, L, Xu, G, Maeda, N, Kluckman, K, Hiller, S, Yu, H, Batta, A K, Shefer, S, Chen, T, Salen, G, Sulik, K, Simoni, R D, Ness, G C, Glossmann, H, Patel, S B, Tint, G S

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Cholesterol biosynthesis from lanosterol. Molecular cloning, tissue distribution, expression, chromosomal localization, and regulation of rat 7-dehydrocholesterol reductase, a Smit... von Bae, S H, Lee, J N, Fitzky, B U, Seong, J, Paik, Y K

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Molecular genetics of the Smith-Lemli-Opitz syndrome and postsqualene sterol metabolism von Fitzky, B U, Glossmann, H, Utermann, G, Moebius, F F

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Mutations in the Δ 7-sterol Reductase Gene in Patients with the Smith--Lemli--Opitz Syndrome von Fitzky, Barbara U., Witsch-Baumgartner, Martina, Erdel, Martin, Lee, Joon No, Paik, Young-Ki, Glossmann, Hartmut, Utermann, Gerd, Moebius, Fabian F.

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Molecular Cloning and Expression of the Human Δ 7-sterol Reductase von Moebius, Fabian F., Fitzky, Barbara U., Lee, Joon No, Paik, Young-Ki, Glossmann, Hartmut

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7-Dehydrocholesterol–dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome von Fitzky, Barbara U., Moebius, Fabian F., Asaoka, Hitoshi, Waage-Baudet, Heather, Xu, Liwen, Xu, Guorong, Maeda, Nobuyo, Kluckman, Kimberly, Hiller, Sylvia, Yu, Hongwei, Batta, Ashok K., Shefer, Sarah, Chen, Thomas, Salen, Gerald, Sulik, Kathleen, Simoni, Robert D., Ness, Gene C., Glossmann, Hartmut, Patel, Shailendra B., Tint, G.S.

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Molecular cloning and expression of the human delta7-sterol reductase von Moebius, F F, Fitzky, B U, Lee, J N, Paik, Y K, Glossmann, H

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Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome von Fitzky, B U, Witsch-Baumgartner, M, Erdel, M, Lee, J N, Paik, Y K, Glossmann, H, Utermann, G, Moebius, F F

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Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome von Witsch-Baumgartner, M, Fitzky, B U, Ogorelkova, M, Kraft, H G, Moebius, F F, Glossmann, H, Seedorf, U, Gillessen-Kaesbach, G, Hoffmann, G F, Clayton, P, Kelley, R I, Utermann, G

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Cholesterol biosynthesis from lanosterol. Molecular cloning, tissue distribution, expression, chromosomal localization, and regulation of rat 7-dehydrocholesterol reductase, a Smit...

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ErratumGenetic Defects in Postsqualene Cholesterol Biosynthesis von Moebius, FF, Fitzky, BU, Glossmann, H

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