Clinical and molecular genetic study of infantile-onset Pompe disease in Chinese patients: Identification of 6 novel mutations (English)
- New search for: Fu, Lijun
- New search for: Fu, Lijun
- New search for: Qiu, Wenjuan
- New search for: Yu, Yongguo
- New search for: Guo, Ying
- New search for: Zhao, Pengjun
- New search for: Zhang, Xu
- New search for: Liu, Chunxiao
- New search for: Li, Fen
- New search for: Huang, Huimin
- New search for: Huang, Meirong
- New search for: Chen, Shubao
In:
Gene
;
535
, 1
; 53-59
;
2014
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ISSN:
- Article (Journal) / Print
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Title:Clinical and molecular genetic study of infantile-onset Pompe disease in Chinese patients: Identification of 6 novel mutations
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Contributors:Fu, Lijun ( author ) / Qiu, Wenjuan / Yu, Yongguo / Guo, Ying / Zhao, Pengjun / Zhang, Xu / Liu, Chunxiao / Li, Fen / Huang, Huimin / Huang, Meirong
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Published in:Gene ; 535, 1 ; 53-59
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Publisher:
- New search for: Elsevier
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Place of publication:Amsterdam
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Publication date:2014
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ISSN:
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ZDBID:
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Type of media:Article (Journal)
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Type of material:Print
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Language:English
- New search for: 42.13 / 42.13
- Further information on Basic classification
- New search for: 535/3924/3830
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Keywords:
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Classification:
BKL: 42.13 / 42.13 Molekularbiologie Local classification TIB: 535/3924/3830 -
Source:
Table of contents – Volume 535, Issue 1
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 1
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Recent advancements in synthetic biology: Current status and challengesSingh, Vijai et al. | 2013
- 12
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Association of glutathione S-transferase M1/T1 polymorphisms with susceptibility to vitiligoLu, Lechun / Wu, Wenjuan / Tu, Ying / Yang, Zhi / He, Li / Guo, Meihua et al. | 2013
- 17
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Expression, SNV identification, linkage disequilibrium, and combined genotype association analysis of the muscle-specific gene CSRP3 in Chinese cattleHe, Hua / Zhang, Hui-lin / Li, Zhi-xiong / Liu, Yu / Liu, Xiao-lin et al. | 2013
- 24
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Transcriptional machinery of TNF-α-inducible YTH domain containing 2 (YTHDC2) geneTanabe, Atsushi / Konno, Junpei / Tanikawa, Kenya / Sahara, Hiroeki et al. | 2013
- 24
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Transcriptional machinery of TNF-a-inducible YTH domain containing 2 (YTHDC2) geneTanabe, A. / Konno, J. / Tanikawa, K. / Sahara, H. et al. | 2014
- 33
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Molecular characterization of two glutathione peroxidase genes of Panax ginseng and their expression analysis against environmental stressesKim, Yu-Jin / Jang, Moon-Gi / Noh, Hae-Yong / Lee, Hye-Jin / Sukweenadhi, Johan / Kim, Jong-Hak / Kim, Se-Yeong / Kwon, Woo-Saeng / Yang, Deok-Chun et al. | 2013
- 42
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Characterization of regulatory mechanism of Poncirus trifoliata microRNAs on their target genes with an integrated strategy of newly developed PPM-RACE and RLM-RACEShangguan, Lingfei / Song, Changnian / Han, Jian / Leng, Xiangpeng / Kibet, Korir Nicholas / Mu, Qian / Kayesh, Emrul / Fang, Jinggui et al. | 2013
- 53
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Clinical and molecular genetic study of infantile-onset Pompe disease in Chinese patients: Identification of 6 novel mutationsFu, Lijun / Qiu, Wenjuan / Yu, Yongguo / Guo, Ying / Zhao, Pengjun / Zhang, Xu / Liu, Chunxiao / Li, Fen / Huang, Huimin / Huang, Meirong et al. | 2013
- 60
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Expression analysis of ATAD3 isoforms in rodent and human cell lines and tissuesLi, Shuijie / Lamarche, Fredéric / Charton, Romain / Delphin, Christian / Gires, Olivier / Hubstenberger, Arnaud / Schlattner, Uwe / Rousseau, Denis et al. | 2013
- 70
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Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic servicesRoberts, Jennifer L. / Hovanes, Karine / Dasouki, Majed / Manzardo, Ann M. / Butler, Merlin G. et al. | 2013
- 79
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Effects of Pro12Ala polymorphism in peroxisome proliferator-activated receptor-g2 gene on metabolic syndrome risk: A meta-analysisZhang,, R. / Wang, J. / Yang, R. / Sun, J. / Chen, R. / Luo, H. / Liu, D. / Cai, D. et al. | 2014
- 79
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Effects of Pro12Ala polymorphism in peroxisome proliferator-activated receptor-γ2 gene on metabolic syndrome risk: A meta-analysisZhang,, Ruyi / Wang, Jiao / Yang, Rui / Sun, Jia / Chen, Rongping / Luo, Haizhao / Liu, Duan / Cai, Dehong et al. | 2013
- 88
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Array CGH characterization of an unbalanced X-autosome translocation associated with Xq27.2–qter deletion, 11q24.3–qter duplication and Xq22.3–q27.1 duplication in a girl with primary amenorrhea and mental retardationChen, Chih-Ping / Lin, Shuan-Pei / Chern, Schu-Rern / Kuo, Yu-Ling / Wu, Peih-Shan / Chen, Yu-Ting / Lee, Meng-Shan / Wang, Wayseen et al. | 2013
- iv
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Editorial Board| 2013