Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood

Por Hengst, Meike, Naehrlich, Lutz, Mahavadi, Poornima, Grosse-Onnebrink, Joerg, Terheggen-Lagro, Suzanne, Skanke, Lars Høsøien, Schuch, Luise A., Brasch, Frank, Guenther, Andreas, Reu, Simone, Ley-Zaporozhan, Julia, Griese, Matthias
Publicado no Orphanet J Rare Dis (2018)

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function

Por Xu, Zhiwen, Lo, Wing-Sze, Beck, David B., Schuch, Luise A., Oláhová, Monika, Kopajtich, Robert, Chong, Yeeting E., Alston, Charlotte L., Seidl, Elias, Zhai, Liting, Lau, Ching-Fun, Timchak, Donna, LeDuc, Charles A., Borczuk, Alain C., Teich, Andrew F., Juusola, Jane, Sofeso, Christina, Müller, Christoph, Pierre, Germaine, Hilliard, Tom, Turnpenny, Peter D., Wagner, Matias, Kappler, Matthias, Brasch, Frank, Bouffard, John Paul, Nangle, Leslie A., Yang, Xiang-Lei, Zhang, Mingjie, Taylor, Robert W., Prokisch, Holger, Griese, Matthias, Chung, Wendy K., Schimmel, Paul
Publicado no Am J Hum Genet (2018)