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High frequency of Friedreich’s ataxia carriers in the Paphos district of Cyprus

A cluster of Friedreich’s ataxia patients has been previously investigated in two neighbouring villages of the Paphos district of Cyprus. Molecular genetic studies revealed that all patients had the most common mutation, a homozygous expansion of the GAA triplet repeat in the first intron of the fra...

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Autors principals: Zamba-Papanicolaou, E, Koutsou, P, Daiou, C, Gaglia, E, Georghiou, A, Christodoulou, K
Format: Artigo
Idioma:Inglês
Publicat: Pacini Editore SpA 2009
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2859631/
https://ncbi.nlm.nih.gov/pubmed/19772192
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