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Related to De novo mutation: back mutation, conditional mutant

MUTATION, French law. This term is synonymous with change, and is particularly applied to designate the change which takes place in the property of a thing in its transmission from one person to another; permutation therefore happens when, the owner of the thing sells, exchanges or gives it. It is nearly synonymous with transfer. (q.v.) Merl. Repert. h.t.

References in periodicals archive ?
One of them (MYH7; Val822Met) was a de novo mutation (not present in the parents of the affected patient).
At the opposite end of the spectrum are de novo mutations that cause profoundly severe epileptic encephalopathies in early childhood.
An advantage of mutation detection over liver biopsy analysis is the knowledge obtained of the causative mutations, which can then be used for diagnosis of siblings and prenatal diagnosis, because such information will not be reliant on linkage analysis (23) and will identify de novo mutations (24).
De novo mutations in sporadic deletional Duchenne muscular dystrophy (DMD) cases.
The new panel was designed in consultation with clinical molecular geneticists researching inherited diseases, and enables detection of both known and de novo mutations.
The occurrence of de novo mutations, as observed in this study, may in part explain the high worldwide incidence of schizophrenia," said Dr.
The research found that these damaging de novo mutations occurred in 6 to 20 percent of children with CHD and other birth defects, but in only 2 percent of children with isolated CHD.
They found that these children have more of these de novo mutations in genes that are highly expressed in the developing heart, compared to a control cohort of children without congenital heart disease.
These de novo mutations can lead to mitochondrion with non-identical genomes.
That's because, in autism, new studies point to rare, de novo mutations (variations that arise spontaneously and are not present in either parent) that nevertheless carry relatively high risk for the disease --the opposite of what is presumed to be the case in schizophrenia, said Dr.
We note how de novo mutations may also help explain why the concordance rate for autism is so markedly higher in monozygotic than dizygotic twins.