Sequencing through hyperexpanded Friedreich’s ataxia-GAA repeats by nanopore technology: implications in genotype–phenotype correlation

Friedreich’s ataxia, an autosomal recessive disorder, is caused by tandem GAA nucleotide repeat expansions in intron 1 of the frataxin gene. The GAA repeats over 66 in number are considered as pathogenic, and commonly occurring pathogenic repeats are within a range of 600–1200. Clinically, the spect...

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Detalles Bibliográficos
Autores principales: Uppili, Bharathram, Sharma, Pooja, Ahmad, Istaq, Sahni, Shweta, Asokachandran, Vivekanand, Nagaraja, Anil B, Srivastava, Achal K, Faruq, Mohammed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10053634/
https://www.ncbi.nlm.nih.gov/pubmed/37006329
http://dx.doi.org/10.1093/braincomms/fcad020

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