Overview

de novo mutation


'de novo mutation' can also refer to...

de novo mutation

de novo mutation

De Novo Mutation in Schizophrenia

Paternal Factors and Schizophrenia Risk: De Novo Mutations and Imprinting

De novo point mutations in patients diagnosed with ataxic cerebral palsy

Identification of mutations including de novo mutations in Korean patients with hypokalaemic periodic paralysis

Hyperkalaemia in a tetraplegic adolescent due to de novo sodium channel mutation

De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero

Sporadic arrhythmogenic right ventricular cardiomyopathy/dysplasia due to a de novo mutation

De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy

Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors

Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis

A gradient-boosting approach for filtering de novo mutations in parent–offspring trios

Discordant phenotypes in monozygotic twins with identical de novo WT1 mutation

A Bayesian framework for de novo mutation calling in parents-offspring trios

De novo PMP2 mutations in families with type 1 Charcot–Marie–Tooth disease

A de novo novel missense mutation in AVPR2 with severe nephrogenic diabetes insipidus

Estimating the Population Mutation Rate from a de novo Assembled Bactrian Camel Genome and Cross-Species Comparison with Dromedary ESTs

Efficient In Planta Detection and Dissection of De Novo Mutation Events in the Arabidopsis thaliana Disease Resistance Gene UNI

 

More Like This

Show all results sharing this subject:

  • Genetics and Genomics

GO

Show Summary Details

Quick Reference

A mutation that occurs in one member of a family as a result of a mutation in a germ cell of a parent or in a fertilized egg. For example, there is no history of achondroplasia (q.v.) in 90% of the families that have one child with the condition. In these situations a de novo mutation occurred, and the parents have a very low chance of having a second child with achondroplasia.

Subjects: Genetics and Genomics.


Reference entries

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.