Article
Mannose-Binding Lectin (MBL) and Gap Junction Protein Alpha 4 (GJA4) Gene Heterogeneity in Relation to Severity of Clinical Disease in Cystic Fibrosis.
Frontiers in bioscience (Landmark edition) - 30 May 2022
Laubach Joern Pascal, Ludwig Michael, Horn Tabea, Eickmeier Olaf, Smaczny Christina, Schubert Ralf, Zielen Stefan, Majoor Christof, Aydin Malik, Schmitt-Grohé Sabina
Abstract excerpt
BACKGROUND: Recently, we provided evidence that a single nucleotide polymorphism (SNP), rs41266431, on the gap junction protein alpha 4 (GJA4) gene, acts as a modifier for clinical disease severity in patients with cystic fibrosis (CF). These features are very similar to those of variants of the mannose-binding lectin (MBL). This study aimed to clarify whether the clinical disease phenotype associated with GJA4...
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