Definition(s)
- A gene which will be expressed only if there are 2 identical copies or, for a male, if one copy is present on the X chromosome.
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Definition from: Human Genome Project Information
at the U.S. Department of Energy
- A genetic disorder that appears only in patients who have received two copies of a mutant gene, one from each parent.
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Definition from: Talking Glossary of Genetic Terms
from the National Human Genome Research Institute
- A gene that is phenotypically manifest in the homozygous state but is masked in the presence of a dominant allele.
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Definition from: Office of Rare Diseases
at the National Institutes of Health
Related discussion in the Handbook
See also Understanding Medical Terminology.