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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

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2017
Highly Cited
2017
Correction of a pathogenic gene mutation in human embryos
Genome editing has potential for the targeted correction of germline mutations. Here we describe the correction of the… 
Highly Cited
2016
Highly Cited
2016
Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.
BACKGROUND Inherited mutations in DNA-repair genes such as BRCA2 are associated with increased risks of lethal prostate cancer… 
Highly Cited
2005
Highly Cited
2005
Acquired Resistance to Imatinib in Gastrointestinal Stromal Tumor Occurs Through Secondary Gene Mutation
Most gastrointestinal stromal tumors (GIST) have an activating mutation in either KIT or PDGFRA. Imatinib is a selective tyrosine… 
Highly Cited
2004
Highly Cited
2004
ZAP-70 compared with immunoglobulin heavy-chain gene mutation status as a predictor of disease progression in chronic lymphocytic leukemia.
BACKGROUND The course of chronic lymphocytic leukemia (CLL) is variable. In aggressive disease, the CLL cells usually express an… 
Highly Cited
2004
Highly Cited
2004
Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.
CONTEXT Germline mutations of the genes encoding succinate dehydrogenase subunits B (SDHB) and D (SDHD) predispose to… 
Highly Cited
2001
Highly Cited
2001
Clinical Resistance to STI-571 Cancer Therapy Caused by BCR-ABL Gene Mutation or Amplification
Clinical studies with the Abl tyrosine kinase inhibitor STI-571 in chronic myeloid leukemia demonstrate that many patients with… 
Highly Cited
1999
Highly Cited
1999
Ig V gene mutation status and CD38 expression as novel prognostic indicators in chronic lymphocytic leukemia.
Cellular immunophenotypic studies were performed on a cohort of randomly selected IgM(+) B-chronic lymphocytic leukemia (B-CLL… 
Highly Cited
1999
Highly Cited
1999
Prognostic implication of FLT3 and N-RAS gene mutations in acute myeloid leukemia.
Internal tandem duplication of the FLT3 gene and point mutations of the N-RAS gene are the most frequent somatic mutations… 
Highly Cited
1990
Highly Cited
1990
Increased high-density lipoprotein levels caused by a common cholesteryl-ester transfer protein gene mutation.
BACKGROUND AND METHODS The plasma cholesteryl-ester transfer protein (CETP) catalyzes the transfer of cholesteryl esters from… 
Highly Cited
1957
Highly Cited
1957
Gene Mutations in Human Hæmoglobin: the Chemical Difference Between Normal and Sickle Cell Hæmoglobin
Gene Mutations in Human Haemoglobin: the Chemical Difference Between Normal and Sickle Cell Haemoglobin 
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