Objectives: To summarize the clinical phenotypes and the variation spectrum of ATP7B gene in Chinese children with Wilson's disease (WD) and to investigate their significance for early diagnosis. Methods: Retrospective analysis was performed on the clinical data of 316 children diagnosed as WD...
Bibliographische Detailangaben
| Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 60(2022), 4 vom: 02. Apr., Seite 317-322
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| 1. Verfasser: |
Lu, Z K
(VerfasserIn) |
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| Weitere Verfasser: |
Cheng, J,
Li, S M,
Lin, Y T,
Zhang, W,
Li, X Z,
Sheng, H Y,
Mao, X J,
Mei, H F,
Zheng, R D,
Liang, C L,
Jiang, M Y,
Huang, Y L,
Liu, L,
Zeng, C H |
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| Format: | Online-Aufsatz
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| Sprache: | Chinese |
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| Veröffentlicht: |
2022
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| Zugriff auf das übergeordnete Werk: | Zhonghua er ke za zhi = Chinese journal of pediatrics
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| Schlagworte: | Journal Article
Copper
789U1901C5
Ceruloplasmin
EC 1.16.3.1
ATP7B protein, human
EC 7.2.2.8
Copper-Transporting ATPases |
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