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

extensor

Health care; Genetic disorders

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

extensor muscle

Health care; Genetic disorders

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

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 ...

splice-site mutation

Health care; Genetic disorders

A mutation that alters or abolishes the specific sequence denoting the site at which the splicing of an intron takes place. Such mutations result in one or more introns remaining in the mature ...

in-frame mutation

Health care; Genetic disorders

A mutation that does not cause a shift in the triplet reading frame; such mutations can, however, lead to the synthesis of an abnormal protein product.

A mutation whose gene product adversely affects the normal, wild-type gene product within the same cell, usually by dimerizing (combining) with it. In cases of polymeric molecules, such as collagen, ...

post-zygotic event

Health care; Genetic disorders

A mutational event or abnormality in chromosome replication/segregation that occurs after fertilization of the ovum by the sperm, often leading to mosaicism (two or more genetically distinct cell ...