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Overview of Genetic Defects in Endocrinopathies in the Island of Cyprus; Evidence of a Founder Effect

✍ Scribed by Shammas, Christos; Neocleous, Vassos; Toumba, Meropi; Costi, Constantina; Phedonos, Alexia A.P.; Efstathiou, Elisavet; Kyriakou, Andreas; Phylactou, Leonidas A.; Skordis, Nicos

Book ID
120468017
Publisher
Mary Ann Liebert
Year
2012
Tongue
English
Weight
205 KB
Volume
16
Category
Article
ISSN
1945-0265

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Wilson disease (WD) in the Sardinian population has an approximate incidence of 1:7,000 live births. Mutation analysis of the WD gene in this population reported in our previous articles led us to the characterization of two common mutations and a group of 13 rare mutations accounting for the molecu