Glossary Term
Frameshift Mutation
A mutation occurring within the protein-coding region of a gene which results in a shift in the reading frame of the encoded protein. Frameshift mutations often result in the premature truncation of a gene product.
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Glossary Term
A mutation occurring within the protein-coding region of a gene which results in a shift in the reading frame of the encoded protein. Frameshift mutations often result in the premature truncation of a gene product.
Tests
The determination of the amount of free hemoglobin present in a sample.
Tests
The determination of the amount of free Immunoglobulin E in a sample.
Tests
The determination of the amount of free normetanephrine present in a sample.
Glossary Term
Tissue that is not frozen or embedded in preservatives
Glossary Term
A tissue sample that has been frozen prior to analysis.
Tests
The determination of the amount of alpha-1 antitrypsin, Functional present in a sample.
Tests
The determination of the ratio of gamma glutamyl transferase compared to creatinine present in a sample. The measurement may be expressed as a ratio or percentage.
Indicators
This gene is involved in erythropoiesis and transcriptional activation.
Indicators
This gene is involved in both DNA binding and transcriptional regulation.
Indicators
This gene plays a role in the modulation of transcription.
Glossary Term
Any DNA sequence rearrangement that results in the gain of one or more copies of a DNA segment that contains at least one gene.