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Results: 7

1.

Point mutation

A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. [from MeSH]

MedGen UID:
56498
Concept ID:
C0162735
Cell or Molecular Dysfunction
2.

Zinc

An element with atomic symbol Zn, atomic number 30, and atomic weight 65.39. [from NCI]

MedGen UID:
22752
Concept ID:
C0043481
Pharmacologic Substance
3.

Adult

From 19 to 65 years of life. [from ORDO]

MedGen UID:
832807
Concept ID:
CN227396
Disease or Syndrome
4.

Mutant

An altered form of an individual, organism, population, or genetic character that differs from the corresponding wild type due to one or more alterations (mutations). [from NCI]

MedGen UID:
109303
Concept ID:
C0596988
Cell or Molecular Dysfunction
5.

Protein binding

The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments. [from MeSH]

MedGen UID:
18704
Concept ID:
C0033618
Molecular Function
6.

Up-Regulation (Physiology)

A positive regulatory effect on physiological processes at the molecular, cellular, or systemic level. At the molecular level, the major regulatory sites include membrane receptors, genes (GENE EXPRESSION REGULATION), mRNAs (RNA, MESSENGER), and proteins. [from MeSH]

MedGen UID:
12003
Concept ID:
C0041904
Molecular Function
7.

GATA1 Gene Mutation

MedGen UID:
443145
Concept ID:
C2826105
Cell or Molecular Dysfunction

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