Skip to search formSkip to main contentSkip to account menu

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

Semantic Scholar uses AI to extract papers important to this topic.
2012
2012
Gene mutation defends against Alzheimer’s disease
Rare genetic variant suggests a cause and treatment for cognitive decline. 
1999
1999
p21 Expression in colorectal carcinomas: a study on 103 cases with analysis of p53 gene mutation/expression and clinic-pathological correlations
Abstract The WAF1/CIP1 gene product, p21, an inhibitor of cyclin-dependent kinases, is a critical downstream effector in the p53… 
1998
1998
Analysis of N-ras gene mutation and p53 gene expression in human hepatocellular carcinomas.
AIM:To study the relationship between N-ras gene mutation and p53 gene expression in the carcinogenesis and the development of… 
1995
1995
Microsatellite instability is an early genetic event in myelodysplastic syndrome.
To the Editor: alterations, such as karyotypic abnormalities and N-RAS and Tf53 mutations.2” are closely associated with the… 
1993
1993
Evidence against keratin gene mutations in a family with ichthyosis hystrix Curth-Macklin.
Ichthyosis hystrix Curth-Macklin is a rare autosomal dominant disease characterized clinically by hyperkeratosis and… 
1987
1987
Structure of a mutant of tyrosyl-tRNA synthetase with enhanced catalytic properties
One surprising outcome of applying the techniques of protein engineering to the enzyme tyrosyl-transfer RNA synthetase was that… 
1987
1987
Impotence induced by a single gene mutation.
Inbred male mice homozygous for the stubby gene mutation were reported to be sterile nineteen years ago. However, the basis of… 
1985
1985
Sequences involved in determining the locations of the 5' ends of the late RNAs of simian virus 40
The 5' ends of the simian virus 40 (SV40) late RNAs are heterogeneous in location, spanning a 300-nucleotide region from residues… 
1970
1970
Control of Uridine Diphosphate-Glucose Dehydrogenase Synthesis and Uridine Diphosphate-Glucuronic Acid Accumulation by a Regulator Gene Mutation in Escherichia coli K-12
Uridine diphosphate (UDP)-glucose dehydrogenase, the enzyme that converts UDP-glucose to UDP-glucuronic acid, was derepressed in… 
Highly Cited
1954
Highly Cited
1954
Effects of a gene mutation in Neurospora crassa relating to glutamic dehydrogenase formation.
SUMMARY: Two strains of Neurospora crassa, which require α-amino nitrogen for growth as a result of a single gene mutation (am…