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mutation
An alteration in the DNA sequence caused by an error in replication or environmental factors. These mutations can be caused by changes to a DNA base, insertions or deletions, or other alterations to the sequence, such as an increase in repeated sequences or more complex structural changes. These changes are then passed on to the cell's descendants.
Grammatical category Noun
Field Genetics
Level of specialization Medium
Definition source Diccionario panhispánico de términos médicos
Variants
Synonym
alteration
Standard
Hyponym
Formal
Formal
Equivalents

Spanish

mutación

Valenciano

mutació
Associated concepts
May cause
genetic disorders
cell death
antibiotic resistance
Is accompanied by
DNA
Examples
Mutations in these genes can cause developmental anomalies, such as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, affecting müllerian duct formation and function. 
While genetic mutations are difficult to reverse, some epigenetic changes can easily be reversed with chemical agents, providing a plethora of possibilities for new therapeutic options for patients with UL.
Collocations
WITH NOUNS
mutation status | mutation analysis | mutation results | mutation accumulation | mutation theory || gene | chromosome | mitochondrial | nuclear | DNA mutation || BRCA1 | CFTR | DNMT3A | TBPL2 mutation
WITH ADJECTIVES
heterozygous | homozygous | missense | point | biallelic | somatic | germline || pathogenic | novel | heritable | dominant | recessive || loss-of-function | gain-of-function | high-penetrance | driver mutation
WITH VERBS
mutation cause | produce | introduce | happen || destabilize | alter | inhibit | affect | contribute || explain | involve | be

inherit | carry | identify | detect | find | confirm | report || inactivate | inhibit | counteract | study | analyze | describe mutation