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-Reference-Cited by-同舟云学术

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

Published:1998-03-01 Issue:13 Volume:37 Page:4420-4428
ISSN:0006-2960
Container-title:Biochemistry
language:en
Short-container-title:Biochemistry

Author:

Chen Wengen¹,Kubota Shunichiro¹,Teramoto Tamio¹,Nishimura Yukiko¹,Yonemoto Kyozo¹,Seyama Yousuke¹

Affiliation:

1. Department of Physiological Chemistry and Metabolism, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 1130033, Japan, First Department of Internal Medicine, Faculty of Medicine, Teikyo University, Itabashiku, Tokyo 1730003, Japan, and Department of Rehabilitation, Jikei Medical School, Komae City, Tokyo 2010003, Japan

Publisher

American Chemical Society (ACS)

Subject

Biochemistry

Link

https://pubs.acs.org/doi/pdf/10.1021/bi972940a

Reference36 articles.

1. Van Bogaert, L., Scherer, H. J., and Epstein, E. (1937) inUne FormeCerebrale De La Cholesterinose Generalisee, pp 1−159, Masson, Paris.

2. Osteoporosis and increased bone fractures in cerebrotendinous xanthomatosis

3. Atherogenic risk factors in cerebrotendinous xanthomatosis

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