Alternative pre-mRNA splicing of the sterol 27-hydroxylase gene (CYP 27) caused by a G to A mutation at the last nucleotide of exon 6 in a patient with cerebrotendinous xanthomatosis (CTX)-Reference-Cited by-同舟云学术

Alternative pre-mRNA splicing of the sterol 27-hydroxylase gene (CYP 27) caused by a G to A mutation at the last nucleotide of exon 6 in a patient with cerebrotendinous xanthomatosis (CTX)

Published:1998-03 Issue:3 Volume:39 Page:509-517
ISSN:0022-2275
Container-title:Journal of Lipid Research
language:en
Short-container-title:Journal of Lipid Research

Author:

Chen Wengen,Kubota Shunichiro,Seyama Yousuke

Publisher

Elsevier BV

Subject

Cell Biology,Endocrinology,Biochemistry

Reference42 articles.

1. Inborn error in bile acid biosynthesis and storage of sterols other than cholesterol;Björkhem,1994

2. Characterization of human sterol 27-hydroxylase: a mitochondrial cytochrome P-450 that catalyzes multiple oxidation reactions in bile acid biosynthesis;Cali;J. Biol. Chem.,1991

3. Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews of Moroccan origin;Leitersdorf;J. Clin. Invest,1993

4. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis;Cali;J. Biol. Chem.,1991

5. Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX);Kim;J. Lipid Res.,1994

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