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Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan

Prenatal diagnoses of mitochondrial diseases caused by defects in nuclear DNA (nDNA) or mitochondrial DNA have been reported in several countries except for Japan. The present study aimed to clarify the status of prenatal genetic diagnosis of mitochondrial diseases caused by nDNA defects in Japan. A...

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Detalles Bibliográficos
Autores principales: Akiyama, Nana, Shimura, Masaru, Yamazaki, Taro, Harashima, Hiroko, Fushimi, Takuya, Tsuruoka, Tomoko, Ebihara, Tomohiro, Ichimoto, Keiko, Matsunaga, Ayako, Saito-Tsuruoka, Megumi, Yatsuka, Yukiko, Kishita, Yoshihito, Kohda, Masakazu, Namba, Akira, Kamei, Yoshimasa, Okazaki, Yasushi, Kosugi, Shinji, Ohtake, Akira, Murayama, Kei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7878886/
https://www.ncbi.nlm.nih.gov/pubmed/33574353
http://dx.doi.org/10.1038/s41598-021-81015-y