What Are Some Examples of Diseases Caused by Missense Mutations?
Missense mutations are implicated in various diseases that can be studied histologically. For instance, sickle cell anemia is caused by a missense mutation in the HBB gene, leading to abnormal hemoglobin that can be observed in blood smears. Similarly, cystic fibrosis results from mutations in the CFTR gene, affecting the function of epithelial cells in multiple organs, which can be studied through histological examination of lung or pancreatic tissues.
