| D008297 |
Male |
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Males |
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| D008661 |
Metabolism, Inborn Errors |
Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. |
Inborn Errors of Metabolism,Metabolism Errors, Inborn,Error, Inborn Metabolism,Errors Metabolism, Inborn,Errors Metabolisms, Inborn,Errors, Inborn Metabolism,Inborn Errors Metabolism,Inborn Errors Metabolisms,Inborn Metabolism Error,Inborn Metabolism Errors,Metabolism Error, Inborn,Metabolism Inborn Error,Metabolism Inborn Errors,Metabolisms, Inborn Errors |
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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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| D012150 |
Polymorphism, Restriction Fragment Length |
Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment. |
RFLP,Restriction Fragment Length Polymorphism,RFLPs,Restriction Fragment Length Polymorphisms |
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| D002334 |
Carnitine O-Palmitoyltransferase |
An enzyme that catalyzes reversibly the conversion of palmitoyl-CoA to palmitoylcarnitine in the inner mitochondrial membrane. EC 2.3.1.21. |
Carnitine Palmitoyltransferase,CPT II,Carnitine Acyltransferase I,Carnitine Palmitoyltransferase I,Carnitine Palmitoyltransferase II,Palmitoylcarnitine Transferase,Palmitylcarnitine Acyltransferase,Acyltransferase I, Carnitine,Acyltransferase, Palmitylcarnitine,Carnitine O Palmitoyltransferase,II, Carnitine Palmitoyltransferase,O-Palmitoyltransferase, Carnitine,Palmitoyltransferase I, Carnitine,Palmitoyltransferase II, Carnitine,Palmitoyltransferase, Carnitine,Transferase, Palmitoylcarnitine |
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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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| D000328 |
Adult |
A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. |
Adults |
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| D012326 |
RNA Splicing |
The ultimate exclusion of nonsense sequences or intervening sequences (introns) before the final RNA transcript is sent to the cytoplasm. |
RNA, Messenger, Splicing,Splicing, RNA,RNA Splicings,Splicings, RNA |
|
| D018482 |
Muscle, Skeletal |
A subtype of striated muscle, attached by TENDONS to the SKELETON. Skeletal muscles are innervated and their movement can be consciously controlled. They are also called voluntary muscles. |
Anterior Tibial Muscle,Gastrocnemius Muscle,Muscle, Voluntary,Plantaris Muscle,Skeletal Muscle,Soleus Muscle,Muscle, Anterior Tibial,Muscle, Gastrocnemius,Muscle, Plantaris,Muscle, Soleus,Muscles, Skeletal,Muscles, Voluntary,Skeletal Muscles,Tibial Muscle, Anterior,Voluntary Muscle,Voluntary Muscles |
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| D020133 |
Reverse Transcriptase Polymerase Chain Reaction |
A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols. |
Polymerase Chain Reaction, Reverse Transcriptase,Reverse Transcriptase PCR,PCR, Reverse Transcriptase,Transcriptase PCR, Reverse |
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