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Article

Two Novel Mutations in the ERCC8 Gene in a Patient with Ultraviolet-sensitive Syndrome.

Acta dermato-venereologica - 1 Jan 2019

Li Yue, Zheng Luyao, Chen Fuying, Yao Zhirong, Li Ming

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 30182135
DOI: 10.2340/00015555-3032

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Related research

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Two Novel Mutations in the ERCC8 Gene in a Patient with Ultraviolet-sensitive Syndrome.PMID 30182135Read ↗

[Cockayne syndrome: a new mutation in the ERCC8 gene].Semantic proximity Read ↗

Identification of one Novel complex delins mutation and one recurrent mutation of ERCC8 gene in a Chinese family with Cockayne Syndrome A.Semantic proximity Read ↗

Xeroderma pigmentosum group D: Report of a novel combination of ERCC2 variations and its phenotype.Semantic proximity Read ↗

A noncancerous variant of xeroderma pigmentosum type D associated with novel heterozygous missense ERCC2 gene mutation.Semantic proximity Read ↗

The CC genotype of the ERCC1 C118T single-nucleotide polymorphism impacts positively on the efficacy of narrowband ultraviolet B therapy for vitiligo.Semantic proximity Read ↗

Maternal origin of a de novo microdeletion spanning the ERCC6 gene in a classic form of the Cockayne syndrome.Semantic proximity Read ↗

Identification of two novel homozygous mutations in ERCC8 gene in two unrelated consanguineous families with Cockayne syndrome from Iran.Semantic proximity Read ↗

Identification of two missense mutations of ERCC6 in three Chinese sisters with Cockayne syndrome by whole exome sequencing.Semantic proximity Read ↗

A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome.Semantic proximity Read ↗

The Structure of the Human ERCC1/XPF Interaction Domains Reveals a Complementary Role for the Two Proteins in Nucleotide Excision RepairSemantic proximity Read ↗

Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress.Semantic proximity Read ↗

Rapid genotyping of human ERCC1 exon 4 polymorphism with fluorescence analysis using fluorophore-labeled hybridization probes and a lightcycler.Semantic proximity Read ↗

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