Additional file 5 of A hypomorphic SRD5A2 haplotype with a potential founder effect: composed of common variants in individuals with 5α-reductase type 2 deficiency from South China
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,
Werner Syndrome (WS) is an autosomal recessive disorder characterized by premature aging due to mutations of the WRN gene. A classical sign in WS patients is short stature, but the underlying mechanis
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
