Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population

We present a study of five children from three unrelated Irish Traveller families presenting with primary ciliary dyskinesia (PCD). As previously characterized disorders in the Irish Traveller population are caused by common homozygous mutations, we hypothesised that all three PCD families shared th...

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Detaylı Bibliyografya
Yayımlandı:Eur J Hum Genet
Asıl Yazarlar: Casey, Jillian P, McGettigan, Paul A, Healy, Fiona, Hogg, Claire, Reynolds, Alison, Kennedy, Breandan N, Ennis, Sean, Slattery, Dubhfeasa, Lynch, Sally A
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2015
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4297907/
https://ncbi.nlm.nih.gov/pubmed/24824133
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.79
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