Clinical and genetic analysis for two children with congenital disturbance of glycosylation with PMM2 gene mutations
OBJECTIVE: To analyze the clinical and PMM2 gene mutation features of congenital disturbance of glycosylation caused by PMM2 gene mutation (PMM2-CDG, previously known as CDG 1a)
| Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 53(2015), 12 vom: 17. Dez., Seite 938-42 |
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| 1. Verfasser: | |
| Weitere Verfasser: | , , , |
| Format: | Aufsatz |
| Sprache: | Chinese |
| Veröffentlicht: |
2015
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| Zugriff auf das übergeordnete Werk: | Zhonghua er ke za zhi = Chinese journal of pediatrics |
| Schlagworte: | Journal Article Phosphotransferases (Phosphomutases) EC 5.4.2.- phosphomannomutase 2, human EC 5.4.2.8 |