| 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 |
|
| D011686 |
Purine-Pyrimidine Metabolism, Inborn Errors |
Dysfunctions in the metabolism of PURINES or PYRIMIDINES resulting from inborn genetic mutations that are inherited or acquired in utero. |
Purine Pyrimidine Metabolism, Inborn Errors |
|
| D005838 |
Genotype |
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. |
Genogroup,Genogroups,Genotypes |
|
| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
|
| D000225 |
Adenine |
A purine base and a fundamental unit of ADENINE NUCLEOTIDES. |
Vitamin B 4,4, Vitamin B,B 4, Vitamin |
|
| D000228 |
Adenine Phosphoribosyltransferase |
An enzyme catalyzing the formation of AMP from adenine and phosphoribosylpyrophosphate. It can act as a salvage enzyme for recycling of adenine into nucleic acids. EC 2.4.2.7. |
AMP Pyrophosphorylase,Transphosphoribosidase,APRTase,Phosphoribosyltransferase, Adenine,Pyrophosphorylase, AMP |
|
| D000483 |
Alleles |
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. |
Allelomorphs,Allele,Allelomorph |
|