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

Radiosensitivity testing

Health care; Genetic disorders

Testing specific to ataxia-telangiectasia (A-T) and other disorders in which cells are particularly sensitive to ionising radiation; demonstrates colony formation of a blood lymphocyte cell line ...

Beta pleated sheet

Health care; Genetic disorders

In a b-sheet two or more polypeptide chains run alongside each other and are linked in a regular manner by hydrogen bonds between the main chain C=O and N-H groups. The R-groups (side chains) of ...

Peripheral nervous system (PNS)

Health care; Genetic disorders

The nervous system outside of the brain and spinal cord. The peripheral nervous system has autonomic and somatic divisions. The autonomic nervous system includes the enteric, parasympathetic, and ...

Obligate carrier

Health care; Genetic disorders

An individual who may be clinically unaffected but who must carry a gene mutation based on analysis of the family history; usually applies to disorders inherited in an autosomal recessive and ...

Sensorineural

Health care; Genetic disorders

Of, relating to, or involving the aspects of sense perception mediated by nerves (sensorineural hearing loss).

Acetone body

Health care; Genetic disorders

Any of the three compounds acetoacetic acid, acetone, and the beta derivative of hydroxybutyric acid which are normal intermediates in lipid metabolism and accumulate in the blood and urine in ...

Homologous chromosomes

Health care; Genetic disorders

The two chromosomes from a particular pair, normally one inherited from the mother and one from the father, containing the same genetic loci in the same order.