Pseudohypoparathyroidism and GNAS gene defects : clinical evaluation and molecular analysis in 20 children
Objective: To analyze the patients' clinical and genetic characteristics with pseudohypoparathyroidism (PHP) and investigate the correlation between clinical phenotypes and genotypes. Methods: Twenty PHP patients were ascertained at Children's Hospital Zhejiang University School of Medicin...
Ausführliche Beschreibung
Bibliographische Detailangaben
| Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 59(2021), 3 vom: 02. März, Seite 206-211
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| 1. Verfasser: |
Xu, X Q
(VerfasserIn) |
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| Weitere Verfasser: |
Zhou, X L,
Chen, X F,
Yuan, J N,
Dai, Y L,
Huang, K,
Dong, G P,
Wu, W,
Fu, J F |
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| Format: | Online-Aufsatz
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| Sprache: | Chinese |
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| Veröffentlicht: |
2021
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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
Chromogranins
GNAS protein, human
EC 3.6.1.-
GTP-Binding Protein alpha Subunits, Gs
EC 3.6.5.1 |
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