Novel frame shift mutation in ERCC6 leads to a severe form of Cockayne syndrome with postnatal growth failure and early death: A case report and brief literature review

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Novel frame shift mutation in ERCC6 leads to a severe form of Cockayne syndrome with postnatal growth failure and early death: A case report and brief literature review

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im August 2018 veröffentlichter wissenschaftlicher Artikel

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wetenschappelijk artikel

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наукова стаття, опублікована в серпні 2018

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Novel frame shift mutation in ...... rt and brief literature review

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Novel frame shift mutation in ...... rt and brief literature review

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Novel frame shift mutation in ...... rt and brief literature review

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Novel frame shift mutation in ...... rt and brief literature review

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Novel frame shift mutation in ...... rt and brief literature review

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Novel frame shift mutation in ...... rt and brief literature review

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P1476

Novel frame shift mutation in ...... rt and brief literature review

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Jing Tian

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Mohammad Shboul

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Peirong Liu

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Qasem Shersheer

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Xiaodong Zhao

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Yao Kou

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Zhaojie Lyu

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Zhihao Wang

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Creative Commons Attribution 4.0 International

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Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome

Structure, function and regulation of CSB: a multi-talented gymnast

Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity

ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes

Identification of two missense mutations of ERCC6 in three Chinese sisters with Cockayne syndrome by whole exome sequencing

A novel ERCC6 splicing variant associated with a mild Cockayne syndrome phenotype

SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information

The I-TASSER Suite: protein structure and function prediction.

Differential requirement for the ATPase domain of the Cockayne syndrome group B gene in the processing of UV-induced DNA damage and 8-oxoguanine lesions in human cells.

The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA.

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e11636

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scholarly article

case report

review article

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10.1097/MD.0000000000011636

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English

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ScienceSource

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2018-08-01T00:00:00Z

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30113454

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developmental disability

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6112894

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