Article
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.
European journal of human genetics : EJHG - 1 Jul 2007
Hakonen Anna H, Davidzon Guido, Salemi Renato, Bindoff Laurence A, Van Goethem Gert, Dimauro Salvatore, Thorburn David R, Suomalainen Anu
Abstract excerpt
We reported previously that the DNA polymerase gamma (POLG) W748S mutation, a common cause of mitochondrial recessive ataxia syndrome (MIRAS), has a common ancient founder for all the disease chromosomes in Finland, Norway, United Kingdom, and Belgium. Here, we present results showing that the same ancestral chromosome underlies MIRAS and Alpers syndrome in Australia and New Zealand. Furthermore, we show that a...
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