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

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

Abstract 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 o...

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Bibliographic Details
Main Authors: K. Sigvard Olsson, Olof Wålinder, Ulf Jansson, Maria Wilbe, Marie-Louise Bondeson, Eva-Lena Stattin, Ruma Raha-Chowdhury, Roger Williams
Format: Article
Language:English
Published: BMC 2017-12-01
Series:Hereditas
Subjects:
Hereditary hemochromatosis
Wilson´s disease
Long QT syndrome
Jervell and Lange- Nielsen´s syndrome
Non syndromic hearing loss
WHRN
Online Access:http://link.springer.com/article/10.1186/s41065-017-0052-2

Internet

http://link.springer.com/article/10.1186/s41065-017-0052-2

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