يعرض 1 - 1 نتائج من 1 نتيجة بحث عن '"F508del) in CFTR"', وقت الاستعلام: 0.33s تنقيح النتائج
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    The CF-modifying gene EHF promotes p.Phe508del-CFTR residual function by altering protein glycosylation and trafficking in epithelial cells

    المؤلفون: Silke Hedtfeld, Tim Becker, Frauke Stanke, Burkhard Tümmler, Andrea van Barneveld, Stefan Wölfl

    المصدر: European Journal of Human Genetics
    European journal of human genetics 22(5), 660-666 (2013). doi:10.1038/ejhg.2013.209

    مصطلحات موضوعية: Candidate gene, Glycosylation, Cystic Fibrosis, Genotype, Cystic Fibrosis Transmembrane Conductance Regulator, EHF protein, human, association study, genetics [Cystic Fibrosis Transmembrane Conductance Regulator], Cystic fibrosis, Article, metabolism [Cystic Fibrosis Transmembrane Conductance Regulator], Gene Frequency, genetics [Cystic Fibrosis], Genetics, medicine, Humans, ddc:610, metabolism [Epithelial Cells], Alleles, transcription factor, Genetics (clinical), Regulation of gene expression, biology, Gene Expression Profiling, metabolism [Cystic Fibrosis], ETS Homologous Factor, Epithelial Cells, genetics [Transcription Factors], Apical membrane, medicine.disease, c.1521_1523delCTT (p.Phe508del, Molecular biology, Cystic fibrosis transmembrane conductance regulator, Amiloride, Transport protein, endophenotype, Protein Transport, cystic fibrosis modifier gene, Gene Expression Regulation, Genetic Loci, biology.protein, F508del) in CFTR, Carrier Proteins, transcriptome, Protein Binding, Transcription Factors, medicine.drug

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a49b1e1dfff531e80706c3bcf1279f04
    https://doi.org/10.1038/ejhg.2013.209

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