| D007041 |
Hypoxanthine Phosphoribosyltransferase |
An enzyme that catalyzes the conversion of 5-phosphoribosyl-1-pyrophosphate and hypoxanthine, guanine, or MERCAPTOPURINE to the corresponding 5'-mononucleotides and pyrophosphate. The enzyme is important in purine biosynthesis as well as central nervous system functions. Complete lack of enzyme activity is associated with the LESCH-NYHAN SYNDROME, while partial deficiency results in overproduction of uric acid. EC 2.4.2.8. |
Guanine Phosphoribosyltransferase,HPRT,Hypoxanthine-Guanine Phosphoribosyltransferase,IMP Pyrophosphorylase,HGPRT,HPRTase,Hypoxanthine Guanine Phosphoribosyltransferase,Phosphoribosyltransferase, Guanine,Phosphoribosyltransferase, Hypoxanthine,Phosphoribosyltransferase, Hypoxanthine-Guanine,Pyrophosphorylase, IMP |
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| D009154 |
Mutation |
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. |
Mutations |
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| D002454 |
Cell Differentiation |
Progressive restriction of the developmental potential and increasing specialization of function that leads to the formation of specialized cells, tissues, and organs. |
Differentiation, Cell,Cell Differentiations,Differentiations, Cell |
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| D004252 |
DNA Mutational Analysis |
Biochemical identification of mutational changes in a nucleotide sequence. |
Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA |
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| D005787 |
Gene Frequency |
The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION. |
Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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| D013601 |
T-Lymphocytes |
Lymphocytes responsible for cell-mediated immunity. Two types have been identified - cytotoxic (T-LYMPHOCYTES, CYTOTOXIC) and helper T-lymphocytes (T-LYMPHOCYTES, HELPER-INDUCER). They are formed when lymphocytes circulate through the THYMUS GLAND and differentiate to thymocytes. When exposed to an antigen, they divide rapidly and produce large numbers of new T cells sensitized to that antigen. |
T Cell,T Lymphocyte,T-Cells,Thymus-Dependent Lymphocytes,Cell, T,Cells, T,Lymphocyte, T,Lymphocyte, Thymus-Dependent,Lymphocytes, T,Lymphocytes, Thymus-Dependent,T Cells,T Lymphocytes,T-Cell,T-Lymphocyte,Thymus Dependent Lymphocytes,Thymus-Dependent Lymphocyte |
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| D015329 |
Gene Rearrangement, T-Lymphocyte |
Ordered rearrangement of T-cell variable gene regions coding for the antigen receptors. |
Gene Rearrangement, T-Cell Antigen Receptor,T-Cell Gene Rearrangement,T-Lymphocyte Gene Rearrangement,Gene Rearrangement, T-Cell,Gene Rearrangement, T Cell,Gene Rearrangement, T Cell Antigen Receptor,Gene Rearrangement, T Lymphocyte,Gene Rearrangements, T-Cell,Gene Rearrangements, T-Lymphocyte,Rearrangement, T-Cell Gene,Rearrangement, T-Lymphocyte Gene,Rearrangements, T-Cell Gene,Rearrangements, T-Lymphocyte Gene,T Cell Gene Rearrangement,T Lymphocyte Gene Rearrangement,T-Cell Gene Rearrangements,T-Lymphocyte Gene Rearrangements |
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