Sökning: "Alda Sousa"

Hittade 1 avhandling innehållade orden Alda Sousa.

  1. 1. Hereditary transthyretin amyloidosis (ATTR V30M) : from genes to genealogy

    Författare :Nina Norgren; Ole Suhr; Alda Sousa; Umeå universitet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Hereditary transthyretin amyloidosis; Familial amyloid polyneuropathy; transthyretin; genealogy; founder effect; miRNA; allele-specific expression; gene expression; liver; medicin; Medicine;

    Sammanfattning : Background: Hereditary transthyretin amyloidosis is an autosomal dominant disease with a reduced penetrance. The most common mutation in Sweden is the V30M mutation in the transthyretin gene. Clustering areas of the disease can be found in Northern Sweden, Portugal, Brazil and Japan, although sporadic cases exist worldwide. LÄS MER