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

作　　者：N Lelli ;R Garuti ;M Ghisellini 等

出　　处：JLR Papers In Press. 1995 ;36(6):1315-1324.

出版社：American Society for Biochemistry and Molecular Biology

文章 ID：192687664

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

作　　者：R Garuti ;N Lelli ;M Barozzini 等

出　　处：JLR Papers In Press. 1996 ;37(3):662-672.

出版社：American Society for Biochemistry and Molecular Biology

文章 ID：192687854

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3.Cerebrotendinous xanthomatosis caused by two new mutations of the sterol-27-hydroxylase gene that disrupt mRNA splicing.

作　　者：R Garuti ;N Lelli ;M Barozzini 等

出　　处：JLR Papers In Press. 1996 ;37(7):1459-1467.

出版社：American Society for Biochemistry and Molecular Biology

文章 ID：192687928

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4.Four novel mutations of sterol 27-hydroxylase gene in Italian patients with cerebrotendinous xanthomatosis.

作　　者：R Garuti ;M A Croce ;R Tiozzo 等

出　　处：JLR Papers In Press. 1997 ;38(11):2322-2334.

出版社：American Society for Biochemistry and Molecular Biology

文章 ID：192688038

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

作　　者：N Lelli ;R Garuti ;F Zambelli 等

出　　处：JLR Papers In Press. 1993 ;34(8):1347-1354.

出版社：American Society for Biochemistry and Molecular Biology

文章 ID：192687219

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