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ERCC8 gene
Known as:
CSA
, CKN1 GENE
, CSA GENE
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National Institutes of Health
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Related topics
Related topics
1 relation
Cockayne Syndrome, Type I
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene
A. Chebly
,
S. Corbani
,
J. Abou Ghoch
,
C. Mehawej
,
A. Mégarbané
,
E. Chouery
BMC Medical Genetics
2018
Corpus ID: 52182624
BackgroundCockayne Syndrome (CS) is a rare autosomal recessive disorder characterized by neurological and sensorial impairment…
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2018
2018
Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome
Audrey Schalk
,
G. Greff
,
+5 authors
N. Calmels
European Journal of Human Genetics
2018
Corpus ID: 256600601
Cockayne syndrome is an autosomal recessive multisystem disorder characterized by intellectual disability, microcephaly, severe…
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2016
2016
Expressão de genes relacionados às vias de reparo de danos em fita simples (ERCC8, ERCC6, ERCC5, XPA e XPC) no DNA em pacientes com síndrome mielodisplásica
A.R.S. Maia
2016
Corpus ID: 172103877
A Sindrome Mielodisplasica (SMD) e um grupo de doencas clonais das celulas progenitoras hematopoieticas, caracterizadas por…
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2015
2015
Effect of ERCC8 tagSNPs and their association with H. pylori infection, smoking, and alcohol consumption on gastric cancer and atrophic gastritis risk
Jing-jing Jing
,
Li-ping Sun
,
Qian Xu
,
Yuan Yuan
Tumor Biology
2015
Corpus ID: 23721320
Excision repair cross-complementing group 8 (ERCC8) plays a critical role in DNA repair. Genetic polymorphisms in ERCC8 may…
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2015
2015
Two Novel Heterozygous Mutations in ERCC8 Cause Cockayne Syndrome in a Chinese Patient.
Yun-pu Cui
,
Yi-Yu Chen
,
Xuemei Wang
,
Xin-li Wang
,
X. Nan
,
Hongshan Zhao
Pediatric Neurology
2015
Corpus ID: 22772061
2015
2015
COCKAYNE SYNDROME: ROLE OF GENETIC COUNSELLING.
Prajod Padmalayam
,
P. Balan
,
Rashmi Sapkal
Journal of Ayub Medical College
2015
Corpus ID: 31694111
Cockayne's Syndrome (CS) is a rare autosomal recessive disorder characterized by deficiency in the transcription-couple DNA…
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2009
2009
Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene.
C. Conte
,
M. D’Apice
,
A. Botta
,
F. Sangiuolo
,
G. Novelli
Genetic Testing and Molecular Biomarkers
2009
Corpus ID: 19488326
Back Cockayne syndrome (CS; MIM 133540-216400) is a rare autosomal recessive neurodegenerative disorder characterized by…
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