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Molecular cloning and expression of the human delta-7-sterol reductase
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F.F. Moebius, B.U. Fitzky, J.N. Lee, Y.K. Paik, and H. Glossmann Molecular cloning and expression of the human delta-7-sterol reductase Proc Natl Acad Sci USA 95 1998 1899 1902
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Smith -Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene
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H.R. Waterham, F.A. Wijburg, R.C.M. Hennekam, P. Vreken, B.T. Poll-The, and L. Dorland Smith -Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene Am J Hum Genet 63 1998 329 338
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Mutation in the Δ7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome
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B.U. Fitzky, M. Witsch-Baumgartner, M. Erdel, J.N. Lee, Y.K. Paik, and H. Glossmann Mutation in the Δ7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome Proc Natl Acad Sci USA 95 1998 8181 8186
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Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome
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Smith-Lemli-Opitz syndrome: A variable clinical and biochemical phenotype
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Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome
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Carrier frequencies of DHCR7 mutation in West-Austria indicate that Smith-Lemli-Opitz syndrome is among the most common autosomal recessive disorders
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Carrier frequency of the Smith-Lemli-Opitz IVS8-1G>C mutation of the DHCR7 gene in African-Americans
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Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-1G>C is found in over sixty percent of propositi
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H. Yu, S. Tint, G. Salen, and S.B. Patel Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-1G>C is found in over sixty percent of propositi Am J Med Genet 90 2000 347 350
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R.I. Kelley Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid, and cultured skin fibroblasts Clin Chim Acta 236 1995 45 58
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