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Journal Abstract Search

171 related items for PubMed ID: 9748042

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  • 3. Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees.
    Lee MH, Hazard S, Carpten JD, Yi S, Cohen J, Gerhardt GT, Salen G, Patel SB.
    J Lipid Res; 2001 Feb; 42(2):159-69. PubMed ID: 11181744
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  • 5. Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis.
    Verrips A, Steenbergen-Spanjers GC, Luyten JA, van den Heuvel LP, Keyser A, Gabreëls FJ, Wevers RA.
    Hum Genet; 1996 Dec; 98(6):735-7. PubMed ID: 8931710
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  • 7. Sudden death due to cerebrotendinous xanthomatosis confirmed by mutation analysis.
    Sperhake JP, Matschke J, Orth U, Gal A, Püschel K.
    Int J Legal Med; 2000 Dec; 113(2):110-3. PubMed ID: 10741487
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  • 9. A Japanese patient with cerebrotendinous xanthomatosis has different mutations within two functional domains of CYP27.
    Toba H, Fukuyama R, Sasaki M, Shiga K, Ishibashi S, Fushiki S.
    Clin Genet; 2002 Jan; 61(1):77-8. PubMed ID: 11903362
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  • 10. Cerebrotendinous xanthomatosis caused by two new mutations of the sterol-27-hydroxylase gene that disrupt mRNA splicing.
    Garuti R, Lelli N, Barozzini M, Tiozzo R, Dotti MT, Federico A, Ottomano AM, Croce A, Bertolini S, Calandra S.
    J Lipid Res; 1996 Jul; 37(7):1459-67. PubMed ID: 8827518
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  • 11. Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis.
    Shiga K, Fukuyama R, Kimura S, Nakajima K, Fushiki S.
    J Neurol Neurosurg Psychiatry; 1999 Nov; 67(5):675-7. PubMed ID: 10519880
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  • 14. Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene.
    Gallus GN, Dotti MT, Federico A.
    Neurol Sci; 2006 Jun; 27(2):143-9. PubMed ID: 16816916
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  • 16. Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis.
    Verrips A, Nijeholt GJ, Barkhof F, Van Engelen BG, Wesseling P, Luyten JA, Wevers RA, Stam J, Wokke JH, van den Heuvel LP, Keyser A, Gabreëls FJ.
    Brain; 1999 Aug; 122 ( Pt 8)():1589-95. PubMed ID: 10430841
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  • 20. Differences in hepatic levels of intermediates in bile acid biosynthesis between Cyp27(-/-) mice and CTX.
    Honda A, Salen G, Matsuzaki Y, Batta AK, Xu G, Leitersdorf E, Tint GS, Erickson SK, Tanaka N, Shefer S.
    J Lipid Res; 2001 Feb; 42(2):291-300. PubMed ID: 11181760
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