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24. Cerebrotendinous xanthomatosis in a Hong Kong Chinese kinship with a novel splicing site mutation IVS6-1G>T in the sterol 27-hydroxylase gene. Mak CM; Lam KS; Tan KC; Ma OC; Tam S Mol Genet Metab; 2004 Feb; 81(2):144-6. PubMed ID: 14741198 [TBL] [Abstract][Full Text] [Related]
25. Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome. Kratz LE; Kelley RI Am J Med Genet; 1999 Feb; 82(5):376-81. PubMed ID: 10069707 [TBL] [Abstract][Full Text] [Related]
27. Silent nucleotide substitution in the sterol 27-hydroxylase gene (CYP 27) leads to alternative pre-mRNA splicing by activating a cryptic 5' splice site at the mutant codon in cerebrotendinous xanthomatosis patients. Chen W; Kubota S; Teramoto T; Nishimura Y; Yonemoto K; Seyama Y Biochemistry; 1998 Mar; 37(13):4420-8. PubMed ID: 9521761 [TBL] [Abstract][Full Text] [Related]
28. Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome. Salen G; Tint GS; Xu G; Batta AK; Irons M; Elias ER Ital J Gastroenterol; 1995 Dec; 27(9):506-8. PubMed ID: 8919321 [TBL] [Abstract][Full Text] [Related]
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30. Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog? Kelley RL; Roessler E; Hennekam RC; Feldman GL; Kosaki K; Jones MC; Palumbos JC; Muenke M Am J Med Genet; 1996 Dec; 66(4):478-84. PubMed ID: 8989473 [TBL] [Abstract][Full Text] [Related]
31. Smith-Lemli-Opitz syndrome and other sterol disorders among Finns with developmental disabilities. Nissinen MJ; Gylling H; Kaski M; Tammisto P; Mieskonen S; Ignatius J; Miettinen TA J Lab Clin Med; 2000 Dec; 136(6):457-67. PubMed ID: 11128747 [TBL] [Abstract][Full Text] [Related]
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34. An efficient synthesis of 4α- and 4β-hydroxy- 7-dehydrocholesterol, biomarkers for patients with and animal models of the Smith-Lemli-Opitz syndrome. Kawamoto H; Ohmori Y; Maekawa M; Shimada M; Mano N; Iida T Chem Phys Lipids; 2013; 175-176():73-8. PubMed ID: 23920082 [TBL] [Abstract][Full Text] [Related]
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36. The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene. Szlago M; Gallus GN; Schenone A; Patiño ME; Sfaelo Z; Rufa A; Da Pozzo P; Cardaioli E; Dotti MT; Federico A Neurology; 2008 Jan; 70(5):402-4. PubMed ID: 18227423 [No Abstract] [Full Text] [Related]
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40. An autopsy case of gallbladder cancer developing in a Japanese man with cerebrotendinous xanthomatosis: genetic analysis of the sterol 27-hydroxylase and p53 genes. Kato H; Koyabu S; Aoki S; Tamai T; Sugawa M; Watanabe M; Shiraishi T Pathology; 2003 Apr; 35(2):141-4. PubMed ID: 12745462 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]