Hasil Pencarian - R Garuti

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  1. 1
    Partial deletion of the gene encoding sterol 27-hydroxylase in a subject with cerebrotendinous xanthomatosis

    Partial deletion of the gene encoding sterol 27-hydroxylase in a subject with cerebrotendinous xanthomatosis oleh R Garuti, N Lelli, M Barozzini, M T Dotti, A Federico, S Bertolini, S Calandra

    Diterbitkan 1996-03-01
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  2. 2
    Four novel mutations of sterol 27-hydroxylase gene in Italian patients with cerebrotendinous xanthomatosis

    Four novel mutations of sterol 27-hydroxylase gene in Italian patients with cerebrotendinous xanthomatosis oleh R Garuti, M A Croce, R Tiozzo, M T Dotti, A Federico, S Bertolini, S Calandra

    Diterbitkan 1997-11-01
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  3. 3
    Occurrence of multiple aberrantly spliced mRNAs of the LDL-receptor gene upon a donor splice site mutation that causes familial hypercholesterolemia (FHBenevento).

    Occurrence of multiple aberrantly spliced mRNAs of the LDL-receptor gene upon a donor splice site mutation that causes familial hypercholesterolemia (FHBenevento). oleh N Lelli, R Garuti, M Ghisellini, R Tiozzo, M Rolleri, V Aimale, E Ginocchio, A Naselli, S Bertolini, S Calandra

    Diterbitkan 1995-06-01
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  4. 4
    Alternative splicing of mutant LDL-receptor mRNA in an Italian patient with familial hypercholesterolemia due to a partial deletion of LDL-receptor gene (FHPotenza)

    Alternative splicing of mutant LDL-receptor mRNA in an Italian patient with familial hypercholesterolemia due to a partial deletion of LDL-receptor gene (FHPotenza) oleh N Lelli, R Garuti, F Zambelli, S Cassanelli, R Tiozzo, A Corsini, S Bertolini, E Riva, MT Ortisi, R Bellù

    Diterbitkan 1993-08-01
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  5. 5
    Cerebrotendinous xanthomatosis caused by two new mutations of the sterol-27-hydroxylase gene that disrupt mRNA splicing.

    Cerebrotendinous xanthomatosis caused by two new mutations of the sterol-27-hydroxylase gene that disrupt mRNA splicing. oleh R Garuti, N Lelli, M Barozzini, R Tiozzo, M T Dotti, A Federico, A M Ottomano, A Croce, S Bertolini, S Calandra

    Diterbitkan 1996-01-01
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