Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies
Nataliya Di Donato, Andrew Thom, Andreas Rump, Johannes N. Greve et autres
Recent advances in Mendelian genomics reveal the importance of variant-level characterization of allelic disorders. Non-muscle actin isoforms, encoded by the genes ACTB and ACTG1, are the most abundant intracellular proteins, but historically, they are often regarded as merely being "housekeeping" molecules. Here, …
de, gb, es, it, us, hk, se, nl, fr (code pays fourni par la source)
4 citations
The American Journal of Human Genetics