New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders

OBJECTIVE: Mitochondrial respiratory chain disorder (MRCD) is an intractable disease of infants with variable clinical symptoms. Our goal was to identify the causative mutations in MRCD patients. METHODS: The subjects were 90 children diagnosed with MRCD by enzyme assay. We analyzed whole mitochondr...

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Detalles Bibliográficos
Autores principales: Uehara, Natsumi, Mori, Masato, Tokuzawa, Yoshimi, Mizuno, Yosuke, Tamaru, Shunsuke, Kohda, Masakazu, Moriyama, Yohsuke, Nakachi, Yutaka, Matoba, Nana, Sakai, Tetsuro, Yamazaki, Taro, Harashima, Hiroko, Murayama, Kei, Hattori, Keisuke, Hayashi, Jun-Ichi, Yamagata, Takanori, Fujita, Yasunori, Ito, Masafumi, Tanaka, Masashi, Nibu, Ken-ichi, Ohtake, Akira, Okazaki, Yasushi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2014
Materias:
Research Papers
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184687/
https://www.ncbi.nlm.nih.gov/pubmed/25356405
http://dx.doi.org/10.1002/acn3.59

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