Transition Mutation

Known as: Mutation, Transition, Nucleotide Transition Abnormality, Transition 
A relatively common point mutation in which a purine is exchanged for a nonidentical purine or a pyrimidine is exchanged for a nonidentical… (More)
National Institutes of Health

Papers overview

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2014
2014
Integrins are cell-surface adhesion receptors that bind to extracellular matrices (ECM) and mediate cell-ECM interactions. Some… (More)
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Highly Cited
2009
Highly Cited
2009
We inferred the rate and properties of new spontaneous mutations in Drosophila melanogaster by carrying out whole-genome shotgun… (More)
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2009
2009
Hereditary nonpolyposis colorectal cancer (HNPCC) is the most common cause of early onset hereditary colorectal cancer. In the… (More)
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Highly Cited
2005
Highly Cited
2005
Tooth development is under strict genetic control. Oligodontia is defined as the congenital absence of 6 or more permanent teeth… (More)
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Highly Cited
2001
Highly Cited
2001
At least two glyoxylate aminotransferases are hypothesized to participate in the steps of photorespiration located in peroxisomes… (More)
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Highly Cited
1997
Highly Cited
1997
BACKGROUND & AIMS We recently identified a single R117H mutation in the cationic trypsinogen gene in several kindreds with an… (More)
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1997
1997
Single base substitutions of the mitochondrial genome are associated with a variety of metabolic disorders. The myopathy… (More)
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1992
1992
Six members of a family with autosomal dominant retinitis pigmentosa were found to have a cytosine-to-thymine transition mutation… (More)
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Highly Cited
1990
Highly Cited
1990
MITOCHONDRIAL encephalomyopathies are usually divided into three distinct clinical subgroups: (1) mitochondrial myopathy… (More)
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Highly Cited
1990
Highly Cited
1990
An A to G transition mutation at nucleotide pair 8344 in human mitochondrial DNA (mtDNA) has been identified as the cause of… (More)
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