Literature DB >> 30007837

Four novel RECQL4 mutations in four Chinese patients with Rothmund-Thomson syndrome and analysis of RECQL4 mRNA expression level in one typical patient.

Tingmei Wang1, Luzhu Chen1, Qiuyun She1, Yingying Dong1, Yunhua Deng2.   

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Year:  2018        PMID： 30007837     DOI： 10.1016/j.jdermsci.2018.06.005

Source DB:  PubMed          Journal:  J Dermatol Sci        ISSN： 0923-1811            Impact factor:   4.563


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  2 in total

Review 1.  Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.

Authors:  Megan Schmit; Anja-Katrin Bielinsky
Journal:  Int J Mol Sci       Date:  2021-01-18       Impact factor: 5.923

Review 2.  Molecular Mechanisms of the RECQ4 Pathogenic Mutations.

Authors:  Xiaohua Xu; Chou-Wei Chang; Min Li; Chao Liu; Yilun Liu
Journal:  Front Mol Biosci       Date:  2021-11-18
  2 in total

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