Pseudodeficiency alleles
id:
pseudodeficiency-alleles-314-7963547
title:
Pseudodeficiency alleles
text:
A pseudodeficiency allele or pseudodeficiency mutation is a mutation that alters the protein product or changes the gene's expression, but without causing disease. For example, in the lysosomal storage diseases, patients with a pseudodeficiency allele show greatly reduced enzyme activity, yet they remain clinically healthy. In medical genetics, a false positive result occurs in an enzyme assay test when test results are positive, but disease or morbidity is not present. One possible cause of fal
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wiki
category slug:
encyclopedia
description:
original url:
https://en.wikipedia.org/wiki/Pseudodeficiency_alleles
date created:
date modified:
2020-04-11T00:51:24Z
main entity:
{"identifier":"Q7254725","url":"https://www.wikidata.org/entity/Q7254725"}
image:
fields total:
13
integrity:
13