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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Veröffentlicht in:Eur J Hum Genet
Hauptverfasser: Casey, Jillian P, McGettigan, Paul A, Healy, Fiona, Hogg, Claire, Reynolds, Alison, Kennedy, Breandan N, Ennis, Sean, Slattery, Dubhfeasa, Lynch, Sally A
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2015
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Article
Online Zugang: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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