Mutational mechanism for DAB1 (ATTTC) n insertion in SCA37: ATTTT repeat lengthening and nucleotide substitution

Dynamic mutations by microsatellite instability are the molecular basis of a growing number of neuromuscular and neurodegenerative diseases. Repetitive stretches in the human genome may drive pathogenicity, either by expansion above a given threshold, or by insertion of abnormal tracts in nonpathoge...

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Detalhes bibliográficos
Autor principal: Loureiro, JR (author)
Outros Autores: Oliveira, CL (author), Mota, C (author), Castro, AF (author), Costa, C (author), Loureiro, JL (author), Coutinho, P (author), Martins, S (author), Sequeiros, J (author), Silveira, I (author)
Formato: article
Idioma:eng
Publicado em: 2020
Assuntos:
Adaptor Proteins, Signal Transducing / genetics
Alleles
Animals
Ataxins / genetics
Base Sequence
Case-Control Studies
Chromosomes
Conserved Sequence
Evolution, Molecular
Haplotypes
Humans
Mutagenesis, Insertional
Nerve Tissue Proteins / genetics
Phylogeny
Portugal
Primates
Repetitive Sequences, Nucleic Acid
Texto completo:https://hdl.handle.net/10216/130747
País:Portugal
Oai:oai:repositorio-aberto.up.pt:10216/130747

Texto Completo

https://hdl.handle.net/10216/130747

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