Articles with "mutations detected" as a keyword



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Spectrum of Alpha-1 Antitripsin Deficiency Mutations Detected in Tenerife

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Published in 2017 at "Archivos De Bronconeumologia"

DOI: 10.1016/j.arbr.2017.08.007

Abstract: 1. Paraschiv M. Iatrogenic tracheobronchial rupture. J Med Life. 2014;7:343–8. 2. Martin de Nicolás JL, Gámez AP, Cruz F, Díaz-Hellín V, Marrón M, Martinez JI, et al. Long tracheobronchial and esophageal rupture after blunt chest… read more here.

Keywords: antitripsin deficiency; rupture; deficiency mutations; alpha antitripsin ... See more keywords
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Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing

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Published in 2017 at "Journal of Dental Research"

DOI: 10.1177/0022034516678829

Abstract: Common variants in interferon regulatory factor 6 (IRF6) have been associated with nonsyndromic cleft lip with or without cleft palate (NSCL/P) as well as with tooth agenesis (TA). These variants contribute a small risk towards… read more here.

Keywords: novel irf6; irf6 mutations; cleft; detected orofacial ... See more keywords