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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

pituitary gland

Health care; Genetic disorders

The main endocrine gland. It produces hormones that control other glands and many body functions, especially growth.

axons

Health care; Genetic disorders

Nerve fibers that are capable of rapidly conducting impulses away from the neuron cell body.

dosage analysis

Health care; Genetic disorders

Method of measuring the quantity of a variety of analytes, including DNA, RNA, and protein, by comparison with a known standard; can be used to determine the number of copies of a sequence of DNA ...

reflex testing

Health care; Genetic disorders

Follow-up testing automatically initiated when certain test results are observed in the laboratory; used to clarify or elaborate on primary test results.

mutation analysis

Health care; Genetic disorders

Testing for the presence of a specific mutation (e.g., Glu6Val for sickle cell anemia or a trinucleotide repeat expansion associated with spinocerebellar ataxia) or set of mutations (e.g., a panel of ...

subunit

Health care; Genetic disorders

A unit that forms a discrete part of a more comprehensive unit (subunits of a protein).

cystine

Health care; Genetic disorders

An amino acid (C6H12N2O4S2) that is a dimer of cysteine, is widespread in proteins (as keratins), and is a major metabolic sulfur source.

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