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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

myosin heavy chain (MHC)

Health care; Genetic disorders

The larger subunits of myosins. The heavy chains have a molecular weight of about 230 kDa and each heavy chain is usually associated with a dissimilar pair of myosin light chains.

myocardiopathies

Health care; Genetic disorders

Any structural or functional disease of heart muscle that is marked especially by hypertrophy of cardiac muscle, by enlargement of the heart, by rigidity and loss of flexibility of the heart walls, ...

parent-of-origin studies

Health care; Genetic disorders

An analysis used to determine whether a particular chromosome or segment of DNA was inherited from an individual's mother or father; helpful in the diagnosis of disorders in which imprinting or ...

cerebellar dysmetria

Health care; Genetic disorders

Impaired ability to estimate distance in muscular action.

telocentric

Health care; Genetic disorders

Having the centromere terminally situated so that there is only one chromosomal arm (telocentric chromosomes).

homozygous

Health care; Genetic disorders

Homozygous is a genetic condition where an individual inherits the same alleles for a particular gene from both parents.

dehydrogenase

Health care; Genetic disorders

An enzyme that accelerates the removal of hydrogen from metabolites and its transfer to other substances.

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