Skip to search formSkip to main contentSkip to account menu

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

Related topics

Related topics

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

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2016
Highly Cited
2016
Chemotherapy a Last Resort for Cancer Treatment
Chemotherapy deals with various types of therapeutic techniques such as antimicrobial chemotherapies, gynecological cancers… 
Highly Cited
2014
Highly Cited
2014
The PSD protein ProSAP2/Shank3 displays synapto-nuclear shuttling which is deregulated in a schizophrenia-associated mutation
Highly Cited
2013
Highly Cited
2013
Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation
Background The autosomal-recessive cerebellar ataxias (ARCA) are a clinically and genetically heterogeneous group of… 
Highly Cited
2002
Highly Cited
2002
Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect.
Three different new mutations were found after CYP21 gene sequencing in three unrelated patients with the classical form of the… 
Highly Cited
1997
Highly Cited
1997
Analysis of helicase gene mutations in Japanese Werner’s syndrome patients
Abstract The profile of helicase gene mutations was studied in 89 Japanese Werner’s syndrome (WRN) patients by examining the… 
Highly Cited
1997
Highly Cited
1997
Overexpression of the FAD3 Desaturase Gene in a Mutant of Arabidopsis
A mutant of Arabidopsis contained increased levels of 18:3 fatty acids and correspondingly decreased levels of 18:2. The fatty… 
Highly Cited
1990
Highly Cited
1990
Structural alterations in the Bacillus subtilis Spo0A regulatory protein which suppress mutations at several spo0 loci
Secondary site mutations that restore sporulation to sporulation-defective spo0F or spo0B deletion mutants were found to reside… 
Highly Cited
1989
Highly Cited
1989
Identification of a second “French Canadian” LDL receptor gene deletion and development of a rapid method to detect both deletions
Hobbs et al. (N. Engl. J. Med. 317: 734–737, 1987) reported a large deletion of approximately 10 kilobases in the 5′ portion of… 
Highly Cited
1982
Highly Cited
1982
SV40 early mutants that are defective for viral DNA synthesis but competent for transformation of cultured rat and simian cells.
Highly Cited
1967
Highly Cited
1967
Hereditary Renal Disease in a Mutant Strain of Rats
Disease of the kidney developed in breeding stock of Gunn rats. The renal lesion is the result of a new mutation. The genetic… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)