Parcourir par sujet "Metabolism, Inborn Errors"
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Association between TLR2/TLR4 gene polymorphisms and COPD phenotype in a Greek cohort [Assoziation zwischen TLR2-/TLR4-Gen-Polymorphismen und COPD-Phänotyp]
(2017)Background: Considering that the innate immune system plays a pivotal role in the pathogenesis of chronic obstructive pulmonary disease (COPD), we hypothesized that functional single-nucleotide polymorphisms (SNPs) of ... -
Functional characterization of the hGRαT556I causing Chrousos syndrome
(2016)Background: Chrousos syndrome is a rare pathologic condition characterized by generalized, partial resistance of target tissues to glucocorticoids and caused by inactivating mutations of the human glucocorticoid receptor ...