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Identification of a novel large deletion of the mitochondrial DNA in an infant with Pearson syndrome: a case report
Pearson syndrome (PS), also known as Pearson marrow-pancreas syndrome, is a rare, multi-systemic disorder caused by large-scale deletion of mitochondrial DNA (mtDNA) ranging from 2.3 kb to 9 kb, with 4,977 bp in length as the most common variant. This paper reported a novel mtDNA deletion of 4,734 b...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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AME Publishing Company
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7882279/ https://www.ncbi.nlm.nih.gov/pubmed/33633954 http://dx.doi.org/10.21037/tp-20-138 |