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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Detaylı Bibliyografya
Asıl Yazarlar: Zamba-Papanicolaou, E, Koutsou, P, Daiou, C, Gaglia, E, Georghiou, A, Christodoulou, K
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Pacini Editore SpA 2009
Konular:
Original Articles
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC2859631/
https://ncbi.nlm.nih.gov/pubmed/19772192
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