Insertion Mutation

Known as: Insertion, Mutations, Insertion, Insertion Mutation Abnormality 
Any rearrangement to the genomic content that adds one or more extra nucleotides into the DNA. Insertions may be reversible, particulary if caused by… (More)
National Institutes of Health

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Highly Cited
2013
Highly Cited
2013
Epidermal growth factor receptor (EGFR) gene mutations (G719X, exon 19 deletions/insertions, L858R, and L861Q) predict favorable… (More)
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Highly Cited
2002
Highly Cited
2002
Tibial muscular dystrophy (TMD) is an autosomal dominant late-onset distal myopathy linked to chromosome 2q31. The linked region… (More)
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Highly Cited
2001
Highly Cited
2001
Background Genetic predisposition to inflammatory bowel disease (IBD) has been shown by epidemiological and linkage studies… (More)
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Highly Cited
2000
Highly Cited
2000
Familial expansile osteolysis (FEO, MIM 174810) is a rare, autosomal dominant bone disorder characterized by focal areas of… (More)
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Highly Cited
1999
Highly Cited
1999
Genomic DNA from 60 cases of acute myeloid leukaemia (AML) was screened for mutations in the c-kit gene. DNA from all 21 exons… (More)
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Highly Cited
1997
Highly Cited
1997
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is the first, and to date only, idiopathic epilepsy for which a… (More)
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Highly Cited
1994
Highly Cited
1994
The region immediately downstream from the miaA tRNA modification gene at 94.8 min contains the hfq gene and the hflA region… (More)
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Highly Cited
1994
Highly Cited
1994
Women who carry mutations in the BRCA1 gene on chromosome 17q have an 85% lifetime risk of breast cancer, and a 60% risk of… (More)
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Highly Cited
1991
Highly Cited
1991
SPT16 was previously identified as a high-copy-number suppressor of delta insertion mutations in the 5' regions of the HIS4 and… (More)
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Highly Cited
1990
Highly Cited
1990
A polymorphism consisting of the presence or absence of a 250-bp DNA fragment was detected within the angiotensin I-converting… (More)
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