A novel single-base substitution (c.1124A>G) that activates a 5-base upstream cryptic splice donor site within exon 11 in the human mitochondrial acetoacetyl-CoA thiolase gene-Reference-Cited by-同舟云学术

A novel single-base substitution (c.1124A>G) that activates a 5-base upstream cryptic splice donor site within exon 11 in the human mitochondrial acetoacetyl-CoA thiolase gene

Published:2008-08 Issue:4 Volume:94 Page:417-421
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Fukao Toshiyuki,Boneh Avihu,Aoki Yusuke,Kondo Naomi

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference36 articles.

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4. Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency;Fukao;J. Clin. Invest.,1990

5. Structure and expression of the human mitochondrial acetoacetyl-CoA thiolase-encoding gene;Kano;Gene,1991

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