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

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...

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Detalles Bibliográficos
Autores principales: Olsson, K. Sigvard, Wålinder, Olof, Jansson, Ulf, Wilbe, Maria, Bondeson, Marie-Louise, Stattin, Eva-Lena, Raha-Chowdhury, Ruma, Williams, Roger
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5735936/
https://www.ncbi.nlm.nih.gov/pubmed/29270100
http://dx.doi.org/10.1186/s41065-017-0052-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5735936/
https://www.ncbi.nlm.nih.gov/pubmed/29270100
http://dx.doi.org/10.1186/s41065-017-0052-2

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