Objective: To explore the clinical features and pathogenic gene mutation of juvenile nephronophthisis (NPHP) in Chinese patients. Method: Clinical data and blood samples of 27 juvenile NPHP patients from 25 families who were initially clinically diagnosed in six hospitals in Guangdong province were...
Bibliographische Detailangaben
| Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 54(2016), 11 vom: 02. Nov., Seite 834-839
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| 1. Verfasser: |
Sun, L Z
(VerfasserIn) |
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| Weitere Verfasser: |
Lin, H R,
Yue, Z H,
Wang, H Y,
Jiang, X Y,
Tong, H J,
Li, M,
Wang, W G,
Mou, Y K,
Yang, F,
Liu, T,
Chen, H M |
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| Format: | Online-Aufsatz
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| Sprache: | Chinese |
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| Veröffentlicht: |
2016
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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
Adaptor Proteins, Signal Transducing
Cytoskeletal Proteins
Membrane Proteins
NPHP1 protein, human |
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