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gene mutation
A permanent mutation of the DNA sequence affecting a single gene. Gene mutations can be classified in two ways: germline mutations, which are inherited from the parents and are present in all cells of the body throughout life; and somatic mutations, which occur at a particular time in a person's life and affect only certain cells.
Grammatical category Noun
Field Genetics
Level of specialization High
Definition source EUPATI
Variants
Synonym
Formal
Equivalents

Spanish

mutación génica
Associated concepts
Is accompanied by
DNA
somatic mutation
Examples
Consequently, the genetic testing of SPGF patients is normally based on the karyotype analysis, the detection of Y chromosome microdeletions, and the screening of gene mutations associated with congenital hypogonadotropic hypogonadism, leaving a large proportion of patients without a known cause of the origin of their infertility.
Betathalassemia (BTH), a genetic disorder resulting from betaglobin gene mutations, affects over 1.5 million people globally. 
Collocations
WITH ADJECTIVES
causative | pathogenic | rare | specific || recessive gene mutation
WITH NOUNS
variety of | screening of | unmasking of gene mutation
WITH VERBS
associate with | lead to | screen for gene mutation