載入...

A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions

Autosomal-dominant progressive external ophthalmoplegia (adPEO) is a mitochondrial disorder that is characterized by accumulation of multiple mitochondrial DNA (mtDNA) deletions in postmitotic tissues. The disorder is heterogeneous, with five known nuclear disease genes that encode the proteins ANT1...

全面介紹

Na minha lista:
書目詳細資料
Main Authors: Tyynismaa, Henna, Ylikallio, Emil, Patel, Mehul, Molnar, Maria J., Haller, Ronald G., Suomalainen, Anu
格式: Artigo
語言:Inglês
出版: Elsevier 2009
主題:
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC2725268/
https://ncbi.nlm.nih.gov/pubmed/19664747
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.07.009
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!