Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Sept 2017

Gu Y, Bhatta A K, Du X, Shao M, Keyal U, Zhang G, Hua Y

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Asian People
Share to Child
Share to Cockayne Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Repair Enzymes

Share to Mutation

Share to Transcription Factors

Source

Identifiers

PMID: 28273366
DOI: 10.1111/jdv.14201

Genes

ERCC8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of one Novel complex delins mutation and one recurrent mutation of ERCC8 gene in a Chinese family with Cockayne Syndrome A.PMID 28273366Read ↗

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

A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome.Semantic proximity Read ↗

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

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

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

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

Clinical and molecular genetic analysis of a Chinese patient with Cockayne syndrome caused by ERCC8 gene synonymous variation and exon 1 deletionSemantic proximity Read ↗

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

Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family.Semantic proximity Read ↗

First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.