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Mutation in an mtDNA Protein-Coding Gene: Prenatal Diagnosis Aided by Fetal Muscle Biopsy

Prenatal diagnosis of disorders due to mitochondrial DNA (mtDNA) tRNA gene mutations is problematic. Experience in families harboring the protein-coding ATPase 6 m.8993T>G mutation suggests that the mutant load is homogeneous in different tissues, thus allowing prenatal diagnosis. We have encount...

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Main Authors: Shanske, Sara, Naini, Ali, Chmait, Ramen H., Akman, Hasan O., Mansukhani, Mahesh, Lu, Jiesheng, Hirano, Michio, DiMauro, Salvatore
Formato: Artigo
Idioma:Inglês
Publicado: 2012
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3959766/
https://ncbi.nlm.nih.gov/pubmed/22532554
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0883073812441067
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