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Frequency of the transthyretin Val30Met mutation in the northern Swedish population

6 Feb 2014

Abstract excerpt

By genotyping a large number of samples from the Northern Sweden Health and Disease Study cohort, a carrier frequency could be determined for the Skellefteå and Lycksele populations. A previous study of the amyloidogenic transthyretin mutation TTRV30M in Northern Sweden's endemic area has shown a large variation in carrier frequency and penetrance of the trait within the area. However, the estimations have been...

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Identifiers

PMID: 24555660
DOI: 10.3109/13506129.2013.860027

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