Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia-Reference-Cited by-同舟云学术

Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia

Published:2004-04 Issue:4 Volume:81 Page:335-342
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Yang Xue,Sakamoto Osamu,Matsubara Yoichi,Kure Shigeo,Suzuki Yoichi,Aoki Yoko,Yamaguchi Seiji,Takahashi Yukihiro,Nishikubo Toshiya,Kawaguchi Chiharu,Yoshioka Akira,Kimura Toshiyuki,Hayasaka Kiyoshi,Kohno Yoshinori,Iinuma Kazuie,Ohura Toshihiro

Publisher

Elsevier BV

Subject

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

Reference25 articles.

1. Disorders of propionate and methylmalonate metabolism;Fenton,2001

2. An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis;Perez-Cerda;Eur. J. Pediatr.,1998

3. Neurologic nonmetabolic presentation of propionic acidemia;Nyhan;Arch. Neurol.,1999

4. Overview of mutations in the PCCA and PCCB genes causing propionic acidemia;Ugarte;Hum. Mutat.,1999

5. Structure of the PCCA gene and distribution of mutations causing propionic acidemia;Campeau;Mol. Genet. Metab.,2001

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