The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.
about
Advances in understanding and treating dystrophic epidermolysis bullosaCHD7 deficiency in "Looper", a new mouse model of CHARGE syndrome, results in ossicle malformation, otosclerosis and hearing impairmentDystrophic epidermolysis bullosa: a reviewMutation update on the CHD7 gene involved in CHARGE syndromeA lack of premature termination codon read-through efficacy of PTC124 (Ataluren) in a diverse array of reporter assaysAccurately annotate compound effects of genetic variants using a context-sensitive framework.Rat model for dominant dystrophic epidermolysis bullosa: glycine substitution reduces collagen VII stability and shows gene-dosage effectxQTL workbench: a scalable web environment for multi-level QTL analysis.Global remodelling of cellular microenvironment due to loss of collagen VII.An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations.Gene therapy: pursuing restoration of dermal adhesion in recessive dystrophic epidermolysis bullosa.LSDBs and How They Have Evolved.Analysis of the functional consequences of targeted exon deletion in COL7A1 reveals prospects for dystrophic epidermolysis bullosa therapy.Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia.Observ-OM and Observ-TAB: Universal syntax solutions for the integration, search, and exchange of phenotype and genotype information.High Local Concentrations of Intradermal MSCs Restore Skin Integrity and Facilitate Wound Healing in Dystrophic Epidermolysis Bullosa.Gentamicin induces functional type VII collagen in recessive dystrophic epidermolysis bullosa patientsKeratinocyte cell lines derived from severe generalized recessive epidermolysis bullosa patients carrying a highly recurrent COL7A1 homozygous mutation: models to assess cell and gene therapies in vitro and in vivo.Epidemiology of inherited epidermolysis bullosa in Romania and genotype-phenotype correlations in patients with dystrophic epidermolysis bullosa.Congenital dystrophic epidermolysis bullosa (DEB) in Sprague Dawley rats: a case series.An RNA-targeted therapy for dystrophic epidermolysis bullosa.Rare disease registries and mutation/variation databases.CRISPR/Cas9-based genetic correction for recessive dystrophic epidermolysis bullosa.Management of severe epidermolysis bullosa by haematopoietic transplant: principles, perspectives and pitfalls.Identification of Two Homozygous Sequence Variants in the COL7A1 Gene Underlying Dystrophic Epidermolysis Bullosa by Whole-Exome Analysis in a Consanguineous Family.
P2860
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P2860
The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
The international dystrophic e ...... ts and their COL7A1 mutations.
@en
The international dystrophic e ...... ts and their COL7A1 mutations.
@nl
type
label
The international dystrophic e ...... ts and their COL7A1 mutations.
@en
The international dystrophic e ...... ts and their COL7A1 mutations.
@nl
prefLabel
The international dystrophic e ...... ts and their COL7A1 mutations.
@en
The international dystrophic e ...... ts and their COL7A1 mutations.
@nl
P2093
P2860
P50
P356
P1433
P1476
The international dystrophic e ...... nts and their COL7A1 mutations
@en
P2093
Alfred Klausegger
Anthonie J van Essen
Cristina Has
Daniele Castiglia
Giovanna Zambruno
Jemima E Mellerio
Johann W Bauer
Leena Bruckner-Tuderman
Marcel F Jonkman
Trebor Rengaw
P2860
P304
P356
10.1002/HUMU.21551
P577
2011-09-09T00:00:00Z