Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing.
about
MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples.Genetic dissection of leukemia-associated IDH1 and IDH2 mutants and D-2-hydroxyglutarate in Drosophila.Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicismAmplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome.Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations.Isocitrate dehydrogenases in physiology and cancer: biochemical and molecular insight.
P2860
Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing.
description
2013 nî lūn-bûn
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name
Novel cases of D-2-hydroxyglut ...... d by amplicon deep sequencing.
@en
Novel cases of D-2-hydroxyglut ...... d by amplicon deep sequencing.
@nl
type
label
Novel cases of D-2-hydroxyglut ...... d by amplicon deep sequencing.
@en
Novel cases of D-2-hydroxyglut ...... d by amplicon deep sequencing.
@nl
prefLabel
Novel cases of D-2-hydroxyglut ...... d by amplicon deep sequencing.
@en
Novel cases of D-2-hydroxyglut ...... d by amplicon deep sequencing.
@nl
P2093
P2860
P50
P1476
Novel cases of D-2-hydroxyglut ...... d by amplicon deep sequencing.
@en
P2093
Cornelis Jakobs
Eline M Hamilton
Ernst Christensen
Gajja S Salomons
Marjo S van der Knaap
Matilde R Fernandez Ojeda
Senay Ozturk
Silvy J M van Dooren
P2860
P304
P356
10.1136/JMEDGENET-2013-101961
P407
P577
2013-09-18T00:00:00Z