- Industry: Library & information science
- Number of terms: 152252
- Number of blossaries: 0
- Company Profile:
The National Library of Medicine (NLM), on the campus of the National Institutes of Health in Bethesda, Maryland, is the world's largest medical library. The Library collects materials and provides information and research services in all areas of biomedicine and health care.
A mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be expressed in males who are hemizygous for the gene mutation (i.e., they have only one X chromosome) and in females who are homozygous for the gene mutation (i.e., they have a copy of the gene mutation on each of their two X chromosomes). Carrier females who have only one copy of the mutation do not usually express the phenotype, although differences in X-chromosome inactivation can lead to varying degrees of clinical expression in carrier females.
Industry:Health care
A molecule inside or on the surface of a cell that binds to a specific substance and causes a specific physiologic effect in the cell.
Industry:Health care
A molecule that binds to another molecule, used especially to refer to a small molecule that binds specifically to a larger molecule.
Industry:Health care
A monovalent group -COOH typical of organic acids--called also carboxyl group.
Industry:Health care
A monovalent group -COOH typical of organic acids--called also carboxyl group.
Industry:Health care
A muscle serving to extend a bodily part (as a limb) -- called also extensor muscle.
Industry:Health care
A muscle serving to extend a bodily part (as a limb) -- called also extensor muscle.
Industry:Health care
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 proportion of mature messenger RNA with improperly spliced intron sequences.
Industry:Health care
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 messenger RNA and can disrupt the generation of the protein product.
Industry:Health care
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.
Industry:Health care
