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Estimating the prevalence of allelic variants in the transthyretin gene by analysing large-scale sequencing data

Transthyretin amyloidosis (ATTR amyloidosis) is a rare disease characterised by extracellular deposition of amyloid fibrils composed by transthyretin. ATTR amyloidosis can be sub-classified as wild-type ATTR (ATTR-wt) or as hereditary amyloidosis (ATTR-m); the prevalence of both types are likely und...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Lahuerta Pueyo, Carmen, Aibar Arregui, Miguel Ángel, Gracia Gutierrez, Anyuli, Bueno Juana, Esperanza, Menao Guillén, Sebastián
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6461877/
https://ncbi.nlm.nih.gov/pubmed/30683924
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0337-1
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