Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia

BACKGROUND: Whole-exome sequencing using next-generation technologies has been previously demonstrated to be able to detect rare disease-causing variants. Progressive external ophthalmoplegia (PEO) is an inherited mitochondrial disease that follows either autosomal dominant or recessive forms of inh...

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Detalles Bibliográficos
Autores principales: Takata, Atsushi, Kato, Maiko, Nakamura, Masayuki, Yoshikawa, Takeo, Kanba, Shigenobu, Sano, Akira, Kato, Tadafumi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3308055/
https://www.ncbi.nlm.nih.gov/pubmed/21951382
http://dx.doi.org/10.1186/gb-2011-12-9-r92

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3308055/
https://www.ncbi.nlm.nih.gov/pubmed/21951382
http://dx.doi.org/10.1186/gb-2011-12-9-r92

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