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Phenotypes of California CF Newborn Screen-Positive Children with CFTR 5T Allele by TG Repeat Length

Background: At the cystic fibrosis transmembrane conductance regulator (CFTR) gene (IVS8)-(TG)m(T)n locus, a lower number of thymidines (legacy names 9T vs. 7T vs. 5T) and a higher number of (TG) repeats (TG-11 vs. 12 vs. 13) are associated with decreasing translation of functional CFTR protein in v...

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Detaylı Bibliyografya
Yayımlandı:Genet Test Mol Biomarkers
Asıl Yazarlar: Salinas, Danieli Barino, Azen, Colleen, Young, Suzanne, Keens, Thomas G., Kharrazi, Martin, Parad, Richard B.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Mary Ann Liebert, Inc. 2016
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5395019/
https://ncbi.nlm.nih.gov/pubmed/27447098
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/gtmb.2016.0102
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