Two Novel Heterozygous Mutations in ERCC8 Cause Cockayne Syndrome in a Chinese Patient.

Cui, Yun-Pu; Chen, Yi-Yu; Wang, Xue-Mei; Wang, Xin-Li; Nan, Xu; Zhao, Hongshan

Cui, Yun-Pu; Chen, Yi-Yu; Wang, Xue-Mei; Wang, Xin-Li; Nan, Xu; Zhao, Hongshan.

Affiliation

Cui YP; Department of Pediatrics, Peking University Third Hospital, Beijing, China.
Chen YY; Department of Immunology, School of Basic Medical Sciences, Peking University, Beijing, China; Human Disease Genomics Center, Peking University, Beijing, China.
Wang XM; Department of Pediatrics, Peking University Third Hospital, Beijing, China.
Wang XL; Department of Pediatrics, Peking University Third Hospital, Beijing, China. Electronic address: Xinli_Wang1217@yahoo.com.cn.
Nan X; Human Disease Genomics Center, Peking University, Beijing, China; Department of Medical Genetics, School of Basic Medical Sciences, Peking University, Beijing, China.
Zhao H; Human Disease Genomics Center, Peking University, Beijing, China; Department of Medical Genetics, School of Basic Medical Sciences, Peking University, Beijing, China. Electronic address: hongshan@bjmu.edu.cn.

Pediatr Neurol ; 53(3): 262-5, 2015 Sep.

Article in En | MEDLINE | ID: mdl-26173784

Subject(s)

Cockayne Syndrome/genetics; DNA Repair Enzymes/genetics; Heterozygote; Mutation; Transcription Factors/genetics; Asian People/genetics; Child; China; DNA Mutational Analysis; Humans; Male

Key words

CSA; Cockayne syndrome; autosomal recessive; mutation

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / Cockayne Syndrome / DNA Repair Enzymes / Heterozygote / Mutation Type of study: Prognostic_studies Limits: Child / Humans / Male Country/Region as subject: Asia Language: En Journal: Pediatr Neurol Journal subject: NEUROLOGIA / PEDIATRIA Year: 2015 Document type: Article Affiliation country: China Country of publication: United States

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