Characterization of three XPG-defective patients identifies three missense mutations that impair repair and transcription.
about
Cell-autonomous progeroid changes in conditional mouse models for repair endonuclease XPG deficiencyClinical utility gene card for: Xeroderma pigmentosum.Genotype-phenotype correlation of xeroderma pigmentosum in a Chinese Han population.A novel mutation in the XPA gene results in two truncated protein variants and leads to a severe XP/neurological symptoms phenotype.Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.Expansion of the genotypic and phenotypic spectrum of xeroderma pigmentosum in Chinese population.Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defectXeroderma pigmentosum-Cockayne syndrome complex.XPF knockout via CRISPR/Cas9 reveals that ERCC1 is retained in the cytoplasm without its heterodimer partner XPF.Novel germline ERCC5 mutations identified in a xeroderma pigmentosum complementation group G pedigree.Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients.Crystal structure of the catalytic core of Rad2: insights into the mechanism of substrate binding.Splice variants of the endonucleases XPF and XPG contain residual DNA repair capabilities and could be a valuable tool for personalized medicine.Identification of a novel mutation confirms phenotypic variability of mutant XPG truncations.
P2860
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P2860
Characterization of three XPG-defective patients identifies three missense mutations that impair repair and transcription.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
Characterization of three XPG- ...... pair repair and transcription.
@en
Characterization of three XPG- ...... pair repair and transcription.
@nl
type
label
Characterization of three XPG- ...... pair repair and transcription.
@en
Characterization of three XPG- ...... pair repair and transcription.
@nl
prefLabel
Characterization of three XPG- ...... pair repair and transcription.
@en
Characterization of three XPG- ...... pair repair and transcription.
@nl
P2093
P4510
P50
P356
P1476
Characterization of three XPG- ...... pair repair and transcription.
@en
P2093
Andreas Ohlenbusch
Anke Schürer
Annika Schäfer
Antje Apel
Christina Seebode
Nobuhiko Kobayashi
Petra Laspe
Steffen Emmert
Steffen Schubert
P2888
P304
P356
10.1038/JID.2013.54
P407
P577
2013-01-31T00:00:00Z