The project contains raw and result files of a proteomics analysis of two patients with type 1 Glanzmann thrombasthenia (Patient1 and 2) caused by homozygous ITGA2b delG mutations and from family (het
Structure of FANCA and FANCG Complex Descriptor: Fanconi anemia complementation group A, Fanconi anemia complementation group G Authors: Jeong, E, Lee, S, Shin, J, Kim, Y, Scharer, O, Kim, Y, Kim, H,
Dystrophin is a large protein involved in the rare genetic disease Duchenne muscular dystrophy (DMD). It functions as a mechanical linker between the cytoskeleton and the sarcolemma, and is able to re
The exosome-independent exoribonuclease DIS3L2 is mutated in Perlman syndrome. Here we used extensive global transcriptomic and targeted biochemical analyses to identify novel DIS3L2 substrates in hum
