Scoperta Genere POLA1
Domenica 24 Aprile 2016 15:27

Annuncio della scoperta del gene POLA1 responsabile della XLPDR

Per ulteriori dettagli cliccare il link seguente

DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis

Scoperta Gene POLA 1

 
Email from a physician in Chile
Lunedì 25 Aprile 2016 21:21
Dopo la pubblicazione su nature.com
Riceviamo e pubblichiamo con immenso piacere questa email che ci 
gratifica di tutti gli sforzi che stiamo facendo.

Email from a physician in Chile:

"I received Nat Immunol Table of Contents yesterday, read your paper, 
and found out I have a patient with XLPDR here with identical phenotype 
to what you describe. Skin, hypohydrosis, face, hair, chronic keratitis, 
bronchiectasis, all fit very clearly with this diagnosis. Due to an 
abnormal sweat test and lung disease he was thought during many years to 
have CF. Certainly the abnormal sweat test seems to have been due to 
hypohydrosis...

Thank you for a fascinating discovery and manuscript."
 


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