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两例晚发型戊二酸尿症Ⅱ型患者的临床及其ETFDH基因研究
OBJECTIVE: To investigate the clinical and genetic features of two families with late-onset glutaric aciduria type Ⅱ caused by ETFDH mutations. METHODS: Target gene sequence capture and next generation sequencing were used for sequencing of suspected patients and their family members. The patients&#...
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| Wydane w: | Zhongguo Dang Dai Er Ke Za Zhi |
|---|---|
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
中国当代儿科杂志编辑部
2017
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7403065/ https://ncbi.nlm.nih.gov/pubmed/28899466 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2017.09.008 |
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