Martin MA et al . Martin MA et al. Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency Case study from Belgium. To view a list of known CPT mutations with links to the original reports, visit Keep the change . To learn about a new method of screening patients for mutations in the CPT2 gene, visit On the spot.
Genes give coded instructions to the cell on how to assemble proteins.
Many human disorders are caused by genetic flaws, or by the absence of one or more genes. Researchers hope to identify all the genes that play a role in human disorders. Once a gene has been linked to a human disorder, researchers hope to learn how to manipulate, correct or replace that flawed gene, or the protein it expresses, in order to treat the disorder.