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Mutation Detection

The detection by physical, chemical, or biological means of an altered DNA sequence. Includes SSCP, DNA sequencing, hybridization, and reporter gene… 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
Correction: Locked Nucleic Acid Probe-Based Real-Time PCR Assay for the Rapid Detection of Rifampin-Resistant Mycobacterium tuberculosis
[This corrects the article DOI: 10.1371/journal.pone.0143444.]. 
2016
2016
EVALUATION OF MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION AS A TOOL FOR DIAGNOSIS AND CARRIER DETECTION IN FAMILIES WITH A DYSTROPHINOPATHY.
We set out to evaluate multiplex ligation dependent probe amplification (MLPA) as a tool for diagnosis and carrier detection in… 
2016
2016
Molecular Characterization of β-Thalassemia Patients in Wasit Province, IRAQ
Background: Hemoglobin-associated disorder is a different group of recessive genetic diseases. which consist of the structural… 
2013
2013
Mutation detection probe, mutation detection method, method of evaluating drug efficacy, and mutation detection kit
The present invention provides a probe for detecting a mutation in the ALK gene, which is at least one fluorescently labeled… 
2007
2007
COL7A1 mutation analysis in Korean patients with dystrophic epidermolysis bullosa
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2007
2007
Activation of the Fibroblast Growth Factor Receptor 3 in Bladder Cancer
textabstractThe identification of frequent FGFR3 mutations in superficial bladder cancer suggests that mutation of the FGFR3… 
1998
1998
Multiplex PCR-SSCP: A highly effective and efficient method of mutation detection and analysis
Multiplex PCR-SSCP: A highly effective and efficient method of mutation detection and analysis 
1997
1997
Does phaster mean better?
The accelerated pace of discovery of disease-causing genes has made efficient mutation detection a priority. Identification of… 
1996
1996
Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD.
We have used an RNA based mutation detection method to screen the total coding region of the dystrophin gene of a Duchenne and a… 
1989
1989
Plasma levels of atrial natriuretic peptide in transient left ventricular ischemia.
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