Article
Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes.
Hereditas - 1 Jan 2017
Olsson K Sigvard, Wålinder Olof, Jansson Ulf, Wilbe Maria, Bondeson Marie-Louise, Stattin Eva-Lena, Raha-Chowdhury Ruma, Williams Roger
Abstract excerpt
BACKGROUND: Genealogy and molecular genetic studies of a Swedish river valley population resulted in a large pedigree, showing that the hereditary hemochromatosis (HH) HFE/p.C282Y mutation is inherited with other recessive disorders such as Wilson´s disease (WND), a rare recessive disorder of copper overload. The population also contain individuals with the Swedish long QT syndrome (LQTS1) founder mutation...
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