The single nucleotide variant at c.662A>G in human RRM2B is a loss‐of‐function mutation

BACKGROUND: Mitochondrial DNA maintenance defects (MDMDs) is one of the critical pediatric dysfunction. One of the recent report indicated that a severe patient of MDMDs carries the NP_056528.2:p.Asn221Ser (N221S) variation in the RRM2B gene (NM_015713.5). However, there is no direct evidence demons...

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Detalles Bibliográficos
Autores principales: Tseng, Yen‐Tzu, Li, Shang‐Wei, HuangFu, Wei‐Chun, Yen, Yun, Liu, I‐Hsuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667293/
https://www.ncbi.nlm.nih.gov/pubmed/32931159
http://dx.doi.org/10.1002/mgg3.1497

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667293/
https://www.ncbi.nlm.nih.gov/pubmed/32931159
http://dx.doi.org/10.1002/mgg3.1497

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