Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation
about
Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.Laser capture microdissection: Big data from small samplesMechanisms and consequences of somatic mosaicism in humansRevertant mosaicism in skin: natural gene therapyGenetic mosaic analysis based on Cre recombinase and navigated laser capture microdissection.Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa.Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10Somatic mosaicism in Fanconi anemia: evidence of genotypic reversion in lymphohematopoietic stem cells.Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings.Molecular identification of collagen 17a1 as a major genetic modifier of laminin gamma 2 mutation-induced junctional epidermolysis bullosa in mice.In vivo reversion to normal of inherited mutations in humans.Gene therapy of epidermolysis bullosa.Massive idiosyncratic exon skipping corrects the nonsense mutation in dystrophic mouse muscle and produces functional revertant fibers by clonal expansion.Somatic mosaicism in Wiskott--Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism.Patient-specific naturally gene-reverted induced pluripotent stem cells in recessive dystrophic epidermolysis bullosaDetecting somatic mosaicism: considerations and clinical implications.Revertant mosaicism in genodermatoses.Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa.
P2860
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P2860
Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation
description
1999 nî lūn-bûn
@nan
1999 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Revertant mosaicism: partial c ...... by a frame-restoring mutation
@ast
Revertant mosaicism: partial c ...... by a frame-restoring mutation
@en
type
label
Revertant mosaicism: partial c ...... by a frame-restoring mutation
@ast
Revertant mosaicism: partial c ...... by a frame-restoring mutation
@en
prefLabel
Revertant mosaicism: partial c ...... by a frame-restoring mutation
@ast
Revertant mosaicism: partial c ...... by a frame-restoring mutation
@en
P2093
P2860
P356
P1476
Revertant mosaicism: partial c ...... by a frame-restoring mutation
@en
P2093
P2860
P304
P356
10.1172/JCI4338
P407
P577
1999-05-01T00:00:00Z