Cargando…
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...
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 |
Ejemplares similares
-
Author Correction: Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan
por: Akiyama, Nana, et al.
Publicado: (2021) -
Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis
por: Ebihara, Tomohiro, et al.
Publicado: (2022) -
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients
por: Ogawa, Erika, et al.
Publicado: (2017) -
Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion
por: Ebihara, Tomohiro, et al.
Publicado: (2022) -
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis
por: Ogawa, Erika, et al.
Publicado: (2020)