Screening for carriers of pathogenic genes for methylmalonic acidemia and Wilson's disease in neonates in Qingdao
Objective: To investigate the carrier frequency of pathogenic genes for methylmalonic acidemia and Wilson's disease in neonates in Qingdao. Methods: In this cross-sectional study, using computer random sampling, 5 020 neonates from the neonatal screening center in Qingdao area from June 2016 to...
Ausführliche Beschreibung
Bibliographische Detailangaben
| Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 58(2020), 7 vom: 02. Juli, Seite 596-599
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| 1. Verfasser: |
Qiao, L Y
(VerfasserIn) |
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| Weitere Verfasser: |
Ge, J,
Li, W J,
Wang, J,
Zhou, G C,
Li, T |
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| Format: | Online-Aufsatz
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| Sprache: | Chinese |
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| Veröffentlicht: |
2020
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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
Genes
Hepatolenticular degeneration
Methylmalonic acidemia
MMACHC protein, human
EC 1.-
Oxidoreductases
ATP7B protein, human
EC 7.2.2.8
Copper-Transporting ATPases |
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