Characterization of the renal phenotype in RMND1‐related mitochondrial disease

BACKGROUND: The nuclear encoded gene RMND1 (Required for Meiotic Nuclear Division 1 homolog) has recently been linked to RMND1‐related mitochondrial disease (RRMD). This autosomal recessive condition characteristically presents with an infantile‐onset multisystem disease characterized by severe hypo...

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Библиографические подробности
Опубликовано в: :Mol Genet Genomic Med
Главные авторы: Shayota, Brian J., Le, Nhon T., Bekheirnia, Nasim, Rosenfeld, Jill A., Goldstein, Amy C., Moritz, Michael, Bartholomew, Dennis W., Pastore, Matthew T., Xia, Fan, Eng, Christine, Yang, Yaping, Lamb, Dolores J., Scaglia, Fernando, Braun, Michael C., Bekheirnia, Mir Reza
Формат: Artigo
Язык:Inglês
Опубликовано: John Wiley and Sons Inc. 2019
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Original Articles
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6900359/
https://ncbi.nlm.nih.gov/pubmed/31568715
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.973
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