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...

Descripción completa

Detalles Bibliográficos
Autores principales: Cisneros-Barroso, E., Gorram, F., Ribot-Sansó, M. A., Alarcon, F., Nuel, G., González-Moreno, J., Rodríguez, A., Hernandez-Rodriguez, J., Amengual-Cladera, E., Martínez-López, I., Ripoll-Vera, T., Losada-López, I., Heine-Suñer, D., Plante-Bordeneuve, V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea: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

Ejemplares similares

Ejemplares similares