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

Revista de neurologia - 16 Aug 2012

Conchello-Monleón Rocío, Peña-Segura José L, Tello-Martín Ángela, Monge-Galindo Lorena, Cabrejas-Lalmolda Ana, Miramar M Dolores, López-Pisón Javier

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Identifiers

PMID: 22829088

Genes

ERCC8

Provenance

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Cockayne syndrome: a new mutation in the ERCC8 gene].PMID 22829088Read ↗

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 ↗

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

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

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

Clinical and Mutation Spectra of Cockayne Syndrome in India.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 ↗

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 ↗

[A pathogenic variation of HRAS gene causing Costello syndrome: a Ras/MAPK pathway syndrome].Semantic proximity Read ↗

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

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