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

類似資料

• Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome
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  出版事項: (2000)
• Molecular cloning and expression of the human Δ7-sterol reductase
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• Birthday of a syndrome: 50 years anniversary of Smith–Lemli–Opitz Syndrome
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• Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS]
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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
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  出版事項: (2001)