Researchers at Baylor College of Medicine and collaborating institutions report in the journal Nature Communications how a mutation in the enzyme SKD3 can cause a form of a genetic disease known as ...
An international research team reveals new molecular mechanisms associated with pathogenic mutations in the protein ...
Most mutations that cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a major study of human protein variants that was published in Nature ...
Sickle cell disease is a hereditary condition, which means a person inherits it from their biological parents. The condition occurs when a person inherits two copies of the hemoglobin beta (HBB) gene ...
CFTR is a protein essential to wet surfaces throughout your body, like the airways of your lungs. People with cystic fibrosis have a gene mutation that causes problems with the protein. Some ...
Most mutations which cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a massive study of human protein variants published today in the ...