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Gene Mutation

Known as: Gene Mutation Type, DNA Alteration, Gene Alteration 
The result of any gain, loss or alteration of the sequences comprising a gene, including all sequences transcribed into RNA.
National Institutes of Health

Related topics

Related topics

50 relations
APC Gene Mut Anal Bld/TCCR5 gene targeted mutation analysis:Prid:Pt:Bld:Nom:MolgenCEBPA gene full mutation analysis:Prid:Pt:Bone mar:Nar:MolgenCYP21A2 gene targeted mutation analysis:Prid:Pt:Amnio fld:Nom:Molgen

Narrower (9)

Chromosome AberrationsDNA DamageFrameshift Mutation functionGene Deletion

Broader (3)

Molecular Genetics (discipline)MutationScience of genetics

Papers overview

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Highly Cited
2008
Highly Cited
2008
Development of an in vivo gene mutation assay using the endogenous Pig‐A gene: I. Flow cytometric detection of CD59‐negative peripheral red blood cells and CD48‐negative spleen T‐cells from the rat
The product of the phosphatidylinositol glycan complementation group A gene (Pig‐A) is involved in the synthesis of… 
Highly Cited
2005
Highly Cited
2005
Implications of cell cycle progression on functional sequence correction by short single-stranded DNA oligonucleotides
Oligonucleotide-based sequence alteration in living cells is a substantial methodological challenge in gene therapy. Here, we… 
Highly Cited
2004
Highly Cited
2004
Characterization of a promoter polymorphism in the glucocorticoid receptor gene and its relationship to three other polymorphisms
objective  Sensitivity to glucocorticoids within the normal population is highly variable and partly determined by polymorphisms… 
Highly Cited
2001
Highly Cited
2001
Prevalence and significance of the familial Mediterranean fever gene mutation encoding pyrin Q148.
Familial Mediterranean fever (FMF) is caused by more than 25 mutations in the gene MEFV, which encodes pyrin (marenostrin), a… 
Highly Cited
1997
Highly Cited
1997
The in vitro motility activity of β-cardiac myosin depends on the nature of the β-myosin heavy chain gene mutation in hypertrophic cardiomyopathy
Several mutations in the β-myosin heavy chain gene cause hypertrophic cardiomyopathy. This study investigates (1) the in vitro… 
Highly Cited
1996
Highly Cited
1996
A transforming growth factor beta type II receptor gene mutation common in sporadic cecum cancer with microsatellite instability.
Mismatch repair genes are the responsible genes for hereditary non-polyposis colon cancer, and mutation of these genes causes… 
Highly Cited
1995
Highly Cited
1995
A common FGFR3 gene mutation in hypochondroplasia.
Hypochondroplasia is a genetic disorder of disproportionate short stature. Linkage analysis provisionally placed… 
Highly Cited
1995
Highly Cited
1995
p53 gene mutation and expression in naevi and melanomas
Mutations of the p53 tumour suppressor gene are common to many human malignancies. Although increased p53 expression has been… 
Highly Cited
1994
Highly Cited
1994
CD44 expression in colorectal adenomas is an early event occurring prior to K-ras and p53 gene mutation.
Neoplastic progression of colorectal epithelial cells from benign adenomas to malignant carcinomas appears to result from a… 
Highly Cited
1978
Highly Cited
1978
Do radiation-induced thioguanine-resistant mutants of cultured mammalian cells arise by HGPRT gene mutation or X-chromosome rearrangement?
RESISTANCE to the cytotoxic purine analogue 6-thioguanine (TG) in cultured mammalian cells is known to be associated with… 
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