What Is the MTHFR Gene Mutation? The MTHFR gene mutation is a variation in the MTHFR gene. This gene normally tells your body how to make the MTHFR protein. You need this protein to process folate, ...

Genetic disorders can occur due to mutations in one gene (monogenic), multiple genes (multifactorial inheritance), and mutation in one or more chromosomes. Point mutations are where one nucleotide in ...

Cystic fibrosis (CF) is a common genetic disorders that has been well studied. Researchers have identified CF-causing mutations in a gene called CFTR, which encodes for an ion channel. The genetic ...

X-linked chronic granulomatous disease (X-CGD) is a rare genetic disorder characterized by high susceptibility to infections that results from genetic mutations in the cytochrome b-245 beta chain ...