Matches in SemOpenAlex for { <https://semopenalex.org/work/W975779619> ?p ?o ?g. }
Showing items 1 to 83 of
83
with 100 items per page.
- W975779619 abstract "In the Portuguese population the prevalence of CF is unknown, as well as, the spectrum of CFTR gene mutations. Objectives The main objective of this work was to evaluate the prevalence of CF and to establish the type and frequency of CFTR mutations in the Portuguese population. Methods DNA was extracted from buccal mucosa cells of 512 Portuguese children, using a commercial kit. CFTR gene analysis was performed by Sanger Sequencing in 206 samples and by Next Generation Sequencing in 306 samples. Results A total of 124 CF- and CFTR-related disorders (RD) mutations were identified. From de 512 samples analyzed, 90 had one mutation (17.6%) and 10 had two (1.9%). Taking into account only mutations included in the CFTR2 mutation database classified as CF-mutations or with varying consequences, the carrier frequency rate was 2.3%, being the most frequent mutation the p.Phe508del (0.98%). From the mutations detected, only the p.Phe508del is included in the screening commercial kits. The majority of mutations detected have been associated to CFTR-RD. The 5T allele (c.1210–12[5T]) was detected with an allelic frequency of 3.4%, followed by the complex allele p.Gly576Ala-p.Arg668Cys with 1.1%. Conclusion A wide spectrum of CFTR mutations was identified, confirming the highest CFTR allelic heterogeneity previously reported in Mediterranean countries. These results highlight the low power detection of the commercial kits for CFTR gene screening in our population. Additionally, this emphasizes the importance of the implemented Neonatal Screening Program last year in Portugal, as it facilitates the early diagnosis of symptom-free newborns carrying mutations." @default.
- W975779619 created "2016-06-24" @default.
- W975779619 creator A5004665377 @default.
- W975779619 creator A5008542912 @default.
- W975779619 creator A5010519908 @default.
- W975779619 creator A5053656730 @default.
- W975779619 creator A5056678458 @default.
- W975779619 creator A5062303743 @default.
- W975779619 creator A5081167690 @default.
- W975779619 date "2015-06-01" @default.
- W975779619 modified "2023-09-28" @default.
- W975779619 title "310 Prevalence of CF and spectrum of CFTR mutations in the Portuguese population" @default.
- W975779619 doi "https://doi.org/10.1016/s1569-1993(15)30484-7" @default.
- W975779619 hasPublicationYear "2015" @default.
- W975779619 type Work @default.
- W975779619 sameAs 975779619 @default.
- W975779619 citedByCount "2" @default.
- W975779619 countsByYear W9757796192016 @default.
- W975779619 countsByYear W9757796192020 @default.
- W975779619 crossrefType "journal-article" @default.
- W975779619 hasAuthorship W975779619A5004665377 @default.
- W975779619 hasAuthorship W975779619A5008542912 @default.
- W975779619 hasAuthorship W975779619A5010519908 @default.
- W975779619 hasAuthorship W975779619A5053656730 @default.
- W975779619 hasAuthorship W975779619A5056678458 @default.
- W975779619 hasAuthorship W975779619A5062303743 @default.
- W975779619 hasAuthorship W975779619A5081167690 @default.
- W975779619 hasBestOaLocation W9757796191 @default.
- W975779619 hasConcept C104317684 @default.
- W975779619 hasConcept C135763542 @default.
- W975779619 hasConcept C167871757 @default.
- W975779619 hasConcept C180754005 @default.
- W975779619 hasConcept C2776938444 @default.
- W975779619 hasConcept C2908647359 @default.
- W975779619 hasConcept C37463918 @default.
- W975779619 hasConcept C501734568 @default.
- W975779619 hasConcept C51679486 @default.
- W975779619 hasConcept C54355233 @default.
- W975779619 hasConcept C71924100 @default.
- W975779619 hasConcept C76818968 @default.
- W975779619 hasConcept C86803240 @default.
- W975779619 hasConcept C99454951 @default.
- W975779619 hasConceptScore W975779619C104317684 @default.
- W975779619 hasConceptScore W975779619C135763542 @default.
- W975779619 hasConceptScore W975779619C167871757 @default.
- W975779619 hasConceptScore W975779619C180754005 @default.
- W975779619 hasConceptScore W975779619C2776938444 @default.
- W975779619 hasConceptScore W975779619C2908647359 @default.
- W975779619 hasConceptScore W975779619C37463918 @default.
- W975779619 hasConceptScore W975779619C501734568 @default.
- W975779619 hasConceptScore W975779619C51679486 @default.
- W975779619 hasConceptScore W975779619C54355233 @default.
- W975779619 hasConceptScore W975779619C71924100 @default.
- W975779619 hasConceptScore W975779619C76818968 @default.
- W975779619 hasConceptScore W975779619C86803240 @default.
- W975779619 hasConceptScore W975779619C99454951 @default.
- W975779619 hasLocation W9757796191 @default.
- W975779619 hasOpenAccess W975779619 @default.
- W975779619 hasPrimaryLocation W9757796191 @default.
- W975779619 hasRelatedWork W1896304586 @default.
- W975779619 hasRelatedWork W1990082800 @default.
- W975779619 hasRelatedWork W2009512908 @default.
- W975779619 hasRelatedWork W2029522824 @default.
- W975779619 hasRelatedWork W2048969000 @default.
- W975779619 hasRelatedWork W2072013640 @default.
- W975779619 hasRelatedWork W2146455207 @default.
- W975779619 hasRelatedWork W2147719432 @default.
- W975779619 hasRelatedWork W2185364739 @default.
- W975779619 hasRelatedWork W2294902684 @default.
- W975779619 hasRelatedWork W2396789090 @default.
- W975779619 hasRelatedWork W2565665500 @default.
- W975779619 hasRelatedWork W2606842539 @default.
- W975779619 hasRelatedWork W265882443 @default.
- W975779619 hasRelatedWork W2793041108 @default.
- W975779619 hasRelatedWork W2795516000 @default.
- W975779619 hasRelatedWork W2913159455 @default.
- W975779619 hasRelatedWork W2947306683 @default.
- W975779619 hasRelatedWork W951448095 @default.
- W975779619 hasRelatedWork W2769103786 @default.
- W975779619 isParatext "false" @default.
- W975779619 isRetracted "false" @default.
- W975779619 magId "975779619" @default.
- W975779619 workType "article" @default.