Condition: Cockayne Syndrome, Type I


rs121434325 in ERCC8 gene and Cockayne Syndrome, Type I PMID 14661080 2004 CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism.

PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

PMID 15744458 2005 Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects.

PMID 14661080 2004 We found that a subject with Cockayne syndrome type A was a compound heterozygote for two new mutations in CKN1 (MIM 216400): a missense mutation (A205P) and a nonsense (E13X) mutation.

PMID 22829088 2012 [Cockayne syndrome: a new mutation in the ERCC8 gene].

PMID 16865293 2006 Cockayne syndrome type A: novel mutations in eight typical patients.

PMID 27004399 2016 Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.

rs143367518 in ERCC8-AS1;ERCC8 gene and Cockayne Syndrome, Type I PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

PMID 16865293 2006 Cockayne syndrome type A: novel mutations in eight typical patients.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

rs1131691783 in ERCC8;ERCC8-AS1 gene and Cockayne Syndrome, Type I PMID 26846091 2016 Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.

PMID 16865293 2006 Cockayne syndrome type A: novel mutations in eight typical patients.

PMID 29057985 2017 Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A.

rs121434324 in ERCC8;NDUFAF2 gene and Cockayne Syndrome, Type I PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.