CareLit · DOI-Nachweis · Pneumologie
Functional analysis of regulatory variants that determine the outcome of the monogenic disease cystic fibrosis
DOI 10.1055/s-0034-1376784
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Nachweis in CareLit
Autor:innenC Awah, S Tamm, S Hedtfeld, B Tümmler, F Stanke
ZeitschriftPneumologie
Ausgabe06/2014
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
The clinical outcome of patients with Cystic Fibrosis is highly variable, even among patients who harbour the same CFTR mutation genotype, indicating that environmental and non-CFTR genetic factors such as modifying genes shape the course of the disease. Two contrasting alleles (C or T) of SNP rs7910656 on intron 2 of the FAS gene have been associated with mild and severe CF outcome. To gain mechanistic insight into…
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Zitierempfehlung
C Awah, S Tamm, S Hedtfeld, B Tümmler, F Stanke (2014) Functional analysis of regulatory variants that determine the outcome of the monogenic disease cystic fibrosis. Pneumologie (06). https://doi.org/10.1055/s-0034-1376784
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