Clinical and molecular findings in a Chinese family with a de novo mitochondrial A1555G mutation

BACKGROUND: The mitochondrial 12S rRNA A1555G mutation is the most prevalent deafness-causing mitochondrial DNA (mtDNA) mutation and is inherited maternally. Studies have suggested that A1555G mutations have multiple origins, although there is no direct evidence of this. Here, we identified a family...

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Detalles Bibliográficos
Autores principales: Gu, Ping, Wang, Guojian, Gao, Xue, Kang, Dongyang, Dai, Pu, Huang, Shasha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9131558/
https://www.ncbi.nlm.nih.gov/pubmed/35614445
http://dx.doi.org/10.1186/s12920-022-01276-y

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