TY  - GEN
AU  - Cisneros-Barroso, Eugenia
AU  - Gorram, F
AU  - Ribot-Sansó, Maria Antonia
AU  - Alarcon, F
AU  - Nuel, G
AU  - González-Moreno, Juan
AU  - Rodríguez, A
AU  - Hernandez-Rodriguez, Jessica
AU  - Amengual-Cladera, Emilia
AU  - Martínez-López, Icíar
AU  - Ripoll-Vera, Tomás
AU  - Losada-López, Inés
AU  - Heine-Suñer, Damián
AU  - Plante-Bordeneuve, V
PY  - 2023
DO  - 10.1186/s13023-023-02865-5
UR  - https://hdl.handle.net/20.500.12105/23639
AB  - 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...
LA  - eng
PB  - BioMed Central (BMC)
KW  - Male
KW  - Female
KW  - Arthrogryposis
KW  - Humans
KW  - Heterozygote
KW  - Excipients
KW  - Amyloid Neuropathies, Familial
TI  - Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca
TY  - research article
ER  -