1. A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation. Issue 2 (24th January 2018) Authors: Mayr, Simon Julius; Sass, Jörn Oliver; Vry, Julia; Kirschner, Janbernd; Mader, Irina; Hövener, Jan‐Bernd; Reiss, Jochen; Santamaria‐Araujo, José Angel; Schwarz, Günter; Grünert, Sarah Catharina Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 2(2018) Page Start: 187 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Functional analysis of the p.[Arg74Trp;Val201Met;Asp1270Asn]/p.Phe508del CFTR mutation genotype in human native colon. Issue 2 (1st January 2019) Authors: Schucht, Sylvia; Minso, Rebecca; Lex, Christiane; Reiss, Jochen; Stanke, Frauke; Tamm, Stephanie; van Barneveld, Andrea; Tümmler, Burkhard Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 2(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗