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Gene Mutation
Known as:
Gene Mutation Type
, DNA Alteration
, Gene Alteration
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The result of any gain, loss or alteration of the sequences comprising a gene, including all sequences transcribed into RNA.
National Institutes of Health
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Related topics
Related topics
50 relations
APC Gene Mut Anal Bld/T
CCR5 gene targeted mutation analysis:Prid:Pt:Bld:Nom:Molgen
CEBPA gene full mutation analysis:Prid:Pt:Bone mar:Nar:Molgen
CYP21A2 gene targeted mutation analysis:Prid:Pt:Amnio fld:Nom:Molgen
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Narrower (9)
Chromosome Aberrations
DNA Damage
Frameshift Mutation function
Gene Deletion
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Broader (3)
Molecular Genetics (discipline)
Mutation
Science of genetics
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2011
2011
Incidence and Prognostic Value of NPM1 and FLT3 Gene Mutations in AML with Normal Karyotype
D. Nafea
,
Mohammed A. Abdel Rahman
,
+5 authors
N. Gorin
2011
Corpus ID: 14927721
NPM1 belongs to a new category of genes that function both as oncogenes and tumor suppressor genes, depending on gene dosage…
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2010
2010
Effect of ompR gene mutation in expression of ompC and ompF of Salmonella typhi
Mahaboobbasha Malickbasha
,
R. Arunachalam
,
B. Senthilkumar
,
M. Rajasekarapandian
,
G. Annadurai
Interdisciplinary Sciences Computational Life…
2010
Corpus ID: 4683866
In the present investigation, a total of 50 stool samples were collected from the food handlers to screen the typhoid…
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2006
2006
Detection of Frequent p 53 Gene Mutations in Primary Gastric Cancer by Cell Sorting and Polymerase Chain Reaction Single-Strand Conformation Polymorphism Analysis
T. Kihana
,
K. Nomura
,
M. Terada
,
T. Sugimura
,
S. Hirohashi
2006
Corpus ID: 23424065
Mutations of the p53 gene were investigated after tumor cell enrich ment by cell sorting based on differences in DNA content and…
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1999
1999
p21 Expression in colorectal carcinomas: a study on 103 cases with analysis of p53 gene mutation/expression and clinic-pathological correlations
S. Girlando
,
P. Slomp
,
+7 authors
M. Barbareschi
Virchows Archiv
1999
Corpus ID: 9640669
Abstract The WAF1/CIP1 gene product, p21, an inhibitor of cyclin-dependent kinases, is a critical downstream effector in the p53…
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1998
1998
A common big-h3 gene mutation (DF540) in a large cohort of Sardinian Reis-Bücklers’ corneal dystrophy patients
C. Rozzo
,
M. Fossarello
,
+5 authors
M. Pirastu
1998
Corpus ID: 90822021
Reis-Bucklers’ corneal dystrophy (RBCD) is a relatively rare autosomal dominant disease originating in the Bowman’s membrane…
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1996
1996
Lack of relation between genetic polymorphism of cytochrome P-450IID6 and sporadic idiopathic Parkinson's disease.
R. Bordet
,
F. Broly
,
A. Destée
,
C. Libersa
,
J. Lafitte
Clinical neuropharmacology
1996
Corpus ID: 25941708
We investigated genetic polymorphism of the cytochrome P-450 CYP2D6 gene from white patients with idiopathic Parkinson's disease…
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1987
1987
Structure of a mutant of tyrosyl-tRNA synthetase with enhanced catalytic properties
K. Brown
,
Peter Brick
,
David M. Blow
Nature
1987
Corpus ID: 4305051
One surprising outcome of applying the techniques of protein engineering to the enzyme tyrosyl-transfer RNA synthetase was that…
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1987
1987
Impotence induced by a single gene mutation.
C. Chubb
,
Lisa Henry
Biology of Reproduction
1987
Corpus ID: 41801729
Inbred male mice homozygous for the stubby gene mutation were reported to be sterile nineteen years ago. However, the basis of…
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1965
1965
A structural gene mutation in Salmonella typhimurium resulting in repressibility of adenylosuccinase.
M. A. Berberich
,
J. Gots
Proceedings of the National Academy of Sciences…
1965
Corpus ID: 12400507
Previous workt with adeninie-requiring auxotrophic mutaiits of Salmonella typhimurium showed that a sequential blockade in the…
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Highly Cited
1954
Highly Cited
1954
Effects of a gene mutation in Neurospora crassa relating to glutamic dehydrogenase formation.
J. Fincham
Journal of General Microbiology
1954
Corpus ID: 36951880
SUMMARY: Two strains of Neurospora crassa, which require α-amino nitrogen for growth as a result of a single gene mutation (am…
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