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A novel AGK splicing mutation in a patient with Sengers syndrome and left ventricular non-compaction cardiomyopathy.

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Title: A novel AGK splicing mutation in a patient with Sengers syndrome and left ventricular non-compaction cardiomyopathy.
Authors: Fan P; Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China., Yang KQ; Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China., Han B; Department of Ophthalmology, Beijing Jishuitan Hospital, Beijing, China., Kong D; Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China., Yin WH; Department of Radiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China., Li JH; Departments of Magnetic Resonance Imaging, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China., Yang ZX; Department of Cardiology, Yuncheng Central Hospital, Yuncheng, China., Niu LL; Department of Echocardiography, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China., Fu CS; Department of Cardiology, the Second Hospital of Anhui Medical University, Hefei, China., Rong CZ; Department of Cardiology, the Second People's Hospital of Fuyang, Fuyang, China., Lin YH; Diagnostic Laboratory Center, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China., Wang H; Department of Medicine, UT Health San Antonio, San Antonio, TX, USA., Zhou XL; Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China., Gao LG; Department of Comprehensive Surgery, Chinese PLA General Hospital, Beijing, China. gaolinggen@163.com., Qin XC; Department of Emergency Centre, Beijing Anzhen Hospital, Capital Medical University, Beijing, China. xiuchuanqin@126.com., Tian T; Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China. tiantaophd@163.com.
Source: Pediatric research [Pediatr Res] 2023 Aug; Vol. 94 (2), pp. 683-690. Date of Electronic Publication: 2023 Feb 09.
Publication Type: Systematic Review; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 0100714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0447 (Electronic) Linking ISSN: 00313998 NLM ISO Abbreviation: Pediatr Res Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A novel AGK splicing mutation in a patient with Sengers syndrome and left ventricular non-compaction cardiomyopathy.
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  Data: <searchLink fieldCode="AU" term="%22Fan+P%22">Fan P</searchLink>; Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Yang+KQ%22">Yang KQ</searchLink>; Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Han+B%22">Han B</searchLink>; Department of Ophthalmology, Beijing Jishuitan Hospital, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Kong+D%22">Kong D</searchLink>; Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Yin+WH%22">Yin WH</searchLink>; Department of Radiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Li+JH%22">Li JH</searchLink>; Departments of Magnetic Resonance Imaging, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Yang+ZX%22">Yang ZX</searchLink>; Department of Cardiology, Yuncheng Central Hospital, Yuncheng, China.<br /><searchLink fieldCode="AU" term="%22Niu+LL%22">Niu LL</searchLink>; Department of Echocardiography, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Fu+CS%22">Fu CS</searchLink>; Department of Cardiology, the Second Hospital of Anhui Medical University, Hefei, China.<br /><searchLink fieldCode="AU" term="%22Rong+CZ%22">Rong CZ</searchLink>; Department of Cardiology, the Second People's Hospital of Fuyang, Fuyang, China.<br /><searchLink fieldCode="AU" term="%22Lin+YH%22">Lin YH</searchLink>; Diagnostic Laboratory Center, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Wang+H%22">Wang H</searchLink>; Department of Medicine, UT Health San Antonio, San Antonio, TX, USA.<br /><searchLink fieldCode="AU" term="%22Zhou+XL%22">Zhou XL</searchLink>; Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Gao+LG%22">Gao LG</searchLink>; Department of Comprehensive Surgery, Chinese PLA General Hospital, Beijing, China. gaolinggen@163.com.<br /><searchLink fieldCode="AU" term="%22Qin+XC%22">Qin XC</searchLink>; Department of Emergency Centre, Beijing Anzhen Hospital, Capital Medical University, Beijing, China. xiuchuanqin@126.com.<br /><searchLink fieldCode="AU" term="%22Tian+T%22">Tian T</searchLink>; Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China. tiantaophd@163.com.
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  Data: <searchLink fieldCode="JN" term="%220100714%22">Pediatric research</searchLink> [Pediatr Res] 2023 Aug; Vol. 94 (2), pp. 683-690. <i>Date of Electronic Publication: </i>2023 Feb 09.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Publishing+Group%22">Nature Publishing Group </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0100714 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1530-0447 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200313998%22">00313998 </searchLink><i>NLM ISO Abbreviation: </i>Pediatr Res <i>Subsets: </i>MEDLINE
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      – Type: doi
        Value: 10.1038/s41390-023-02515-3
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      – Code: eng
        Text: English
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      – TitleFull: A novel AGK splicing mutation in a patient with Sengers syndrome and left ventricular non-compaction cardiomyopathy.
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              M: 08
              Text: 2023 Aug
              Type: published
              Y: 2023
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