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...

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Détails bibliographiques
Auteurs principaux: 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.
Format: Online Article Texte
Langue:English
Publié: BioMed Central 2023
Sujets:
Research
Accès en ligne: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

Internet

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

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