Genetic disorders

Genetic disorders

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

Industry: Health care

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Genetic disorders

mutation screening

Health care; Genetic disorders

A process by which a segment of DNA is screened via one of a variety of methods to identify variant gene region(s). Variant regions are further analyzed (by sequence analysis or mutation analysis) to ...

palpebronasal fold

Health care; Genetic disorders

A prolongation of a fold of the skin of the upper eyelid over the inner angle or both angles of the eye.

mediator complex

Health care; Genetic disorders

A protein complex that enables the RNA polymerase II-general RNA polymerase II transcription factor complex to react to transcriptional activator proteins; also enhances the level of basal ...

actin

Health care; Genetic disorders

A protein found especially in microfilaments (as those comprising myofibrils) and active in muscular contraction, cellular movement, and maintenance of cell shape.

ammonia

Health care; Genetic disorders

A pungent colorless gaseous alkaline compound of nitrogen and hydrogen NH3 that is very soluble in water and can easily be condensed to a liquid by cold and pressure.

carnitine

Health care; Genetic disorders

A quaternary ammonium compound C7H15NO3 that is present especially in vertebrate muscle, is involved in the transfer of fatty acids across mitochondrial membranes, and in humans is obtained from food ...

acute myelogenous leukemia

Health care; Genetic disorders

A quickly progressing disease in which too many immature blood-forming cells are found in the blood and bone marrow. Also called acute myeloid leukemia or acute nonlymphocytic leukemia.