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

Uppili, Bharathram; Sharma, Pooja; Ahmad, Istaq; Sahni, Shweta; Asokachandran, Vivekanand; Nagaraja, Anil B; Srivastava, Achal K; Faruq, Mohammed

Uppili, Bharathram; Sharma, Pooja; Ahmad, Istaq; Sahni, Shweta; Asokachandran, Vivekanand; Nagaraja, Anil B; Srivastava, Achal K; Faruq, Mohammed.

Afiliação

Uppili B; Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi 110007, India.
Sharma P; Academy for Scientific and Innovative Research, Ghaziabad 201002, India.
Ahmad I; Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi 110007, India.
Sahni S; Academy for Scientific and Innovative Research, Ghaziabad 201002, India.
Asokachandran V; Neurology Department, Neurosciences Centre, All India Institute of Medical Sciences, New Delhi 110029, India.
Nagaraja AB; Neurology Department, Neurosciences Centre, All India Institute of Medical Sciences, New Delhi 110029, India.
Srivastava AK; Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi 110007, India.
Faruq M; Academy for Scientific and Innovative Research, Ghaziabad 201002, India.

Brain Commun ; 5(2): fcad020, 2023.

Article em En | MEDLINE | ID: mdl-37006329

Palavras-chave

FRDA; GAA repeats; long-read sequencing; trinucleotide repeats

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Guideline Idioma: En Revista: Brain Commun Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Índia

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