Clinical and genetic analysis of mucolipidosis in 3 pedigrees and literature review
Objective: To investigate the clinical and genetic characteristics of 3 patients with mucolipidosis and to perform literature review. Methods: A retrospective analysis was made on the clinical data and genetic test results of 3 pedigrees with mucolipidosis. The patients were followed up at the Genet...
| Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 57(2019), 12 vom: 02. Dez., Seite 950-954 |
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| Format: | Online-Aufsatz |
| Sprache: | Chinese |
| Veröffentlicht: |
2019
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| Zugriff auf das übergeordnete Werk: | Zhonghua er ke za zhi = Chinese journal of pediatrics |
| Schlagworte: | Journal Article Review Genetic variant mucolipidoses Transferases (Other Substituted Phosphate Groups) EC 2.7.8.- GNPTAB protein, human EC 2.7.8.15 |
| Online verfügbar |
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