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-  2019 

C1QA and C1QC modify age‐at‐onset in familial amyloid polyneuropathy patients

DOI: 10.1002/acn3.748

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Abstract:

Transthyretin (TTR) familial amyloid polyneuropathy (FAP) (OMIM 176300) shows a variable age‐at‐onset (AO), including within families. We hypothesized that variants in C1QA and C1QC genes, might also act as genetic modifiers of AO in TTR‐FAP Val30Met Portuguese patients

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