Literature DB >> 28273366

Identification of one Novel complex delins mutation and one recurrent mutation of ERCC8 gene in a Chinese family with Cockayne Syndrome A.

Y Gu1, A K Bhatta2, X Du1, M Shao1, U Keyal2, G Zhang2, Y Hua3.   

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Year:  2017        PMID： 28273366     DOI： 10.1111/jdv.14201

Source DB:  PubMed          Journal:  J Eur Acad Dermatol Venereol        ISSN： 0926-9959            Impact factor:   6.166


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  2 in total

1.  Cockayne syndrome without UV-sensitivity in Vietnamese siblings with novel ERCC8 variants.

Authors:  Nguyen Thuy Duong; Tran Huu Dinh; Britta S Möhl; Stefan Hintze; Do Hai Quynh; Duong Thi Thu Ha; Ngo Diem Ngoc; Vu Chi Dung; Noriko Miyake; Nong Van Hai; Naomichi Matsumoto; Peter Meinke
Journal:  Aging (Albany NY)       Date:  2022-06-22       Impact factor: 5.955

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

Authors:  Xiaozhu Wang; Yu Huang; Ming Yan; Jiuwei Li; Changhong Ding; Hong Jin; Fang Fang; Yanling Yang; Baiyan Wu; Dafang Chen
Journal:  Sci Rep       Date:  2017-10-20       Impact factor: 4.379
  2 in total

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