A Trans-acting Factor May Modify Age at Onset in Familial Amyloid Polyneuropathy ATTRV30M in Portugal

Although all familial amyloid polyneuropathy (FAP) ATTRV30M patients carry the same causative mutation, early (<40) and late-onset forms (≥50 years) of FAP may coexist in the same family. However, this variability in age at onset is still unexplained. To identify modifiers closely linked to the T...

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Bibliographic Details
Main Author: Alves-Ferreira, M (author)
Other Authors: Coelho, T (author), Santos, D (author), Sequeiros, J (author), Alonso, I (author), Sousa, A (author), Lemos, C (author)
Format: article
Language:eng
Published: 2018
Subjects:
Adult
Age of Onset
Alleles
Amyloid Neuropathies, Familial / genetics
Case-Control Studies
Female
Gene Frequency
Haplotypes
Humans
Male
Middle Aged
Mutation
Polymorphism, Single Nucleotide
Portugal
Prealbumin / genetics
Online Access:https://hdl.handle.net/10216/126989
Country:Portugal
Oai:oai:repositorio-aberto.up.pt:10216/126989

Internet

https://hdl.handle.net/10216/126989

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