A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency-Reference-Cited by-同舟云学术

A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency

Published:2010-05 Issue:1 Volume:100 Page:37-41
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Fukao Toshiyuki,Nguyen Hoan Thi,Nguyen Nhan Thu,Vu Dung Chi,Can Ngoc Thi Bich,Pham Anh Thi Van,Nguyen Khanh Ngoc,Kobayashi Hironori,Hasegawa Yuki,Bui Thao Phuong,Niezen-Koning Kary E.,Wanders Ronald J.A.,Koning Tom de,Nguyen Liem Thanh,Yamaguchi Seiji,Kondo Naomi

Funder

Ministry of Education, Science, Sports and Culture of Japan

The Ministry of Health, Labor and Welfare of Japan

Publisher

Elsevier BV

Subject

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

Reference28 articles.

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3. The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (β-ketothiolase deficiency) in 26 enzymatically proved and mutation-defined patients;Fukao;Mol. Genet. Metab.,2001

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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