Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa.
about
Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletionRevertant mosaicism in skin: natural gene therapyGenetics and epigenetics of the skin meet deep sequence.Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10The genetics of human skin disease.Mosaicism in genetic skin disorders.Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.Suspension survival mediated by PP2A-STAT3-Col XVII determines tumour initiation and metastasis in cancer stem cells.Novel and emerging therapies in the treatment of recessive dystrophic epidermolysis bullosa.The long and winding road that leads to a cure for epidermolysis bullosa.Blistering disease: insight from the hemidesmosome and other components of the dermal-epidermal junction.Hereditary epidermolysis bullosa.RNA-based therapies for genodermatoses.Aberrant 3' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.Revertant mosaicism in genodermatoses.A reversion of an IL2RG mutation in combined immunodeficiency providing competitive advantage to the majority of CD8+ T cellsRevertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3Induced pluripotent stem cells from human revertant keratinocytes for the treatment of epidermolysis bullosa.Somatic mosaicism with reversion to normality of a mutated transthyretin allele related to a familial amyloidotic polyneuropathy.First symposium on natural gene therapy of the skin.Pigmentation and melanocyte supply to the epidermis depend on type XVII collagen.Expanding the Mutation Spectrum of Ichthyosis with Confetti.A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa.Genetics. Mosaicism--switch or spectrum?
P2860
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P2860
Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa.
description
2005 nî lūn-bûn
@nan
2005 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Multiple correcting COL17A1 mu ...... cism of epidermolysis bullosa.
@ast
Multiple correcting COL17A1 mu ...... cism of epidermolysis bullosa.
@en
type
label
Multiple correcting COL17A1 mu ...... cism of epidermolysis bullosa.
@ast
Multiple correcting COL17A1 mu ...... cism of epidermolysis bullosa.
@en
prefLabel
Multiple correcting COL17A1 mu ...... cism of epidermolysis bullosa.
@ast
Multiple correcting COL17A1 mu ...... cism of epidermolysis bullosa.
@en
P2093
P2860
P356
P1476
Multiple correcting COL17A1 mu ...... cism of epidermolysis bullosa.
@en
P2093
Anna M G Pasmooij
Franciska C L Deviaene
Marcel F Jonkman
Miranda Nijenhuis
P2860
P304
P356
10.1086/497344
P407
P577
2005-09-09T00:00:00Z