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De novo mutation

Known as: De novo mutations, new mutation 
An alteration in a gene that is present for the first time in one family member as a result of a mutation in a germ cell (egg or sperm) of one of the… 
National Institutes of Health

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Related topics

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ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IVAU-KLINE SYNDROMEAtelosteogenesis, type 1Cleft palate, isolated

Papers overview

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2011
2011
Mutant Generation for Aspect Oriented Programs
Testing of aspect oriented programs is a new programming paradigm. Many researchers had contributed their research in the field… 
2008
2008
Optimizing constrained problems through a T-Cell artificial immune system
In this paper, we present a new model of an artificial immune system (AIS), based on the process that suffers the T-Cell, it is… 
2002
2002
Identification of a New Type 2M von Willebrand Disease Mutation also at Position 1324 of von Willebrand Factor
Summary Type 2M von Willebrand disease (VWD) refers to variants with decreased platelet-dependent function that is not associated… 
2002
2002
Maxa , A New Low-Frequency Platelet-Specific Antigen Localized on Glycoprotein IIb , Is Associated With Neonatal Alloimmune Thrombocytopenia
We have identified a new platelet-specific alloantigen, Max', responsible for a typical case of neonatal alloimmune… 
1998
1998
Hb Hammersmith [β 42(CD1) Phe→Ser]: Occurrence as a De Novo Mutation in Black Monozygotic Twins With Multiple Congenital Anomalies
Purpose: To present the occurrence of Hb Hammersmith as a de novo mutation in African-American twins with multiple congenital… 
1998
1998
Genetic Consequences of the Chernobyl Accident for Belarus Republic
IntroductionNumerous studies have shown that a great number of residents in Belarus, Russia and the Ukraine were exposed to… 
1998
1998
Optimization of bilinear time series models using fast evolutionary programming
This letter presents a new algorithm, fast evolutionary programming (FEP), for determining the model orders and parameters of… 
1992
1992
A reinvestigation of thirty three fragile(X) families using probe StB12.3.
We have reinvestigated 33 fragile X families using probe StB12.3. In 31 families the affected individual showed an insert while… 
1989
1989
XK aprosencephaly may be a new mutation or a dominant genetic defect.
  • P. Benke
  • American journal of medical genetics
  • 1989
  • Corpus ID: 35017771
1962
1962
Complementation and recombination on among PYR-3 heteroalleles of Neurospora crassa.
Comparison between a genetic and a complementation map of the pyrimidine- 3 locus of Neurospora is presented. The exceptions to…