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

nonsense mutation

Health care; Genetic disorders

1) A single base pair substitution that prematurely codes for a stop in amino acid translation (stop codon) 2) A nonsense mutation is the substitution of a single base pair that leads to the ...

1) A single base pair substitution that results in the translation of a different amino acid at that position. 2) A missense mutation is when the change of a single base pair causes the substitution ...

genetic heterogeneity

Health care; Genetic disorders

1) A single disorder, trait, or pattern of traits caused by genetic factors in some cases and non-genetic factors in others. 2) The production of identical or similar phenotypes by different genetic ...

single nucleotide polymorphism

Health care; Genetic disorders

1) A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population. 2) A variant DNA sequence in which the purine or pyrimidine base (as cytosine) of a ...

fovea

Health care; Genetic disorders

1) A small fossa. 2) A small rodless area of the retina that affords acute vision.

atrioventricular (AV) node

Health care; Genetic disorders

1) A small nodular mass of specialized muscle fibers located in the interatrial septum near the opening of the coronary sinus. It gives rise to the atrioventricular bundle of the conduction system of ...