The mouse model closely mimics the specific dysferlin mutation and resulting disease, and enabled the researchers to evaluate how the complete therapy works—taking muscle stem cells, correcting ...
Figure 2: Genetic map of 5p15.1 and genomic organization of ANKH. Figure 3: Cosegregation of ANKH mutations with the CMD phenotype. All eight families with mutations in ANKH are shown. We ...
This fundamental work presents two clinically relevant BMP4 mutations that contribute to vertebrate development. The convincing evidence supports that the site-specific cleavage at the BMP4 pro-domain ...