Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene

scientific article published on February 2009

Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1089/GTMB.2008.0092
P698PubMed publication ID19309286

P50authorGiuseppe NovelliQ16560937
P2093author name stringMaria Rosaria D'Apice
Annalisa Botta
Federica Sangiuolo
Chiara Conte
P433issue1
P921main subjectCockayne syndromeQ914389
P304page(s)127-131
P577publication date2009-02-01
P1433published inGenetic Testing and Molecular BiomarkersQ15753742
P1476titlePrenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene
P478volume13

Reverse relations

cites work (P2860)
Q28237422A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation
Q82609106High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel
Q42653766Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A.
Q39931897Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

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