Phenotypic and genotypic spectra of patients with glucose-6-phosphate dehydrogenase deficiency gene known pathogenic variants : a single-center study
Objective: To analyze the hotspots of known pathogenic disease-causing variants of glucose-6-phosphate dehydrogenase (G6PD) and the phenotype spectrum of neonatal patients with known pathogenic disease-causing variants of G6PD. Methods: The known pathogenic disease-causing variants of G6PD were coll...
Ausführliche Beschreibung
Bibliographische Detailangaben
| Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 56(2018), 5 vom: 02. Mai, Seite 364-368
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| 1. Verfasser: |
Chen, X
(VerfasserIn) |
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| Weitere Verfasser: |
Yang, L,
Wang, H J,
Wu, B B,
Lu, Y L,
Dong, X R,
Zhou, W H |
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| Format: | Online-Aufsatz
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| Sprache: | Chinese |
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| Veröffentlicht: |
2018
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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
Glucosephosphate dehydrogenase deficiency
Infant, newborn
Mutation
Glucosephosphate Dehydrogenase
EC 1.1.1.49 |
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