Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/jhg200049.pdf
Cited by 61 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Variable predicted pathogenic mechanisms for novel MECP2 variants in RTT patients;Journal of Genetic Engineering and Biotechnology;2022-03-11
2. First report of an unusual novel double mutation affecting the transcription repression domain of MeCP2 and causing a severe phenotype of Rett syndrome: Molecular analyses and computational investigation;Biochemical and Biophysical Research Communications;2018-02
3. Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation;Molecular Autism;2017-08-03
4. RettBASE: Rett syndrome database update;Human Mutation;2017-06-09
5. Molecular diagnostic dilemmas in Rett syndrome;Brain and Development;2012-10
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