Point Mutation

Known as: Mutation, Point, Mutations, Point, Point Mutations 
A small-scale mutation in which a single nucleotide is exchanged for another. Mutagenic chemicals and mistakes in DNA replication may result in point… (More)

Topic mentions per year

Topic mentions per year

1944-2017
0500100019442016

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2016
Review
2016
Prion diseases in humans are neurodegenerative diseases which are caused by an accumulation of abnormal, misfolded cellular prion… (More)
  • table 1
  • table 1
  • table 2
  • figure 1
  • figure 2
Is this relevant?
Review
2016
Review
2016
Understanding the molecular landscape of cancer has facilitated the development of diagnostic, prognostic, and predictive… (More)
  • figure 1
  • figure 2
  • table 1
  • figure 3
Is this relevant?
Highly Cited
2013
Highly Cited
2013
Detection of somatic point substitutions is a key step in characterizing the cancer genome. However, existing methods typically… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • table 1
Is this relevant?
Highly Cited
2005
Highly Cited
2005
Mutations of the epidermal growth factor receptor (EGFR) gene have been identified in specimens from patients with non-small-cell… (More)
Is this relevant?
Highly Cited
2004
Highly Cited
2004
Somatic mutations in the tyrosine kinase (TK) domain of the epidermal growth factor receptor (EGFR) gene are reportedly… (More)
  • table 1
  • figure 1
  • table 2
  • figure 2
  • figure 3
Is this relevant?
Highly Cited
1994
Highly Cited
1994
Mice homozygous for lpr (lymphoproliferation) or gld (generalized lymphoproliferative disease) develop lymphadenopathy and suffer… (More)
Is this relevant?
Highly Cited
1994
Highly Cited
1994
Activated protein C (APC) is a serine protease with potent anticoagulant properties, which is formed in blood on the endothelium… (More)
Is this relevant?
Highly Cited
1991
Highly Cited
1991
A locus segregating with familial Alzheimer's disease (AD) has been mapped to chromosome 21, close to the amyloid precursor… (More)
Is this relevant?
Highly Cited
1989
Highly Cited
1989
We have improved the "polymerase chain reaction" (PCR) to permit rapid analysis of any known mutation in genomic DNA. We… (More)
  • figure 1
  • figure 3
Is this relevant?
Highly Cited
1989
Highly Cited
1989
We report a rapid and sensitive method for the detection of base changes in given sequences of genomic DNA. This technique is… (More)
Is this relevant?