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Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca
BACKGROUND: Variant transthyretin amyloidosis (A-ATTRv) is an autosomal dominant disease caused by a range of TTR gene variants which entail great phenotypical heterogeneity and penetrance. In Majorca, the A-ATTRv caused by the V30M gene variant (A-ATTRV30M) is the most common. Since asymptomatic ca...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artigo Texto |
Idioma: | English |
Publicado em: |
BioMed Central
2023
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Assuntos: | |
Acesso em linha: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10472571/ https://www.ncbi.nlm.nih.gov/pubmed/37653545 http://dx.doi.org/10.1186/s13023-023-02865-5 |