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Genetic disorders

Genetic diseases, syndromes, or conditions caused by genetic variations and abnormalities in genes or chromosomes.

Contributors in Genetic disorders

Genetic disorders

Intronic mutation

Health care; Genetic disorders

A mutation (usually a base substitution) within an intron that creates an alternative splice site that competes with the normal splice sites during RNA processing. Such a mutation results in a ...

Receptor

Health care; Genetic disorders

A molecule inside or on the surface of a cell that binds to a specific substance and causes a specific physiologic effect in the cell.

Carboxyl group

Health care; Genetic disorders

A monovalent group -COOH typical of organic acids--called also carboxyl group.

Extensor muscle

Health care; Genetic disorders

A muscle serving to extend a bodily part (as a limb) -- called also extensor muscle.

Ligand

Health care; Genetic disorders

A molecule that binds to another molecule, used especially to refer to a small molecule that binds specifically to a larger molecule.

Extensor

Health care; Genetic disorders

A muscle serving to extend a bodily part (as a limb) -- called also extensor muscle.

Carboxyl

Health care; Genetic disorders

A monovalent group -COOH typical of organic acids--called also carboxyl group.

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