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4个甲基丙二酸尿症的家系基因突变分析及其胎儿产前诊断
OBJECTIVE: To study gene mutations in four pedigrees with methymalonic aciduria, as well as the feasibility of prenatal diagnosis of methymalonic aciduria. METHODS: High-throughput sequencing was performed for related genes in the peripheral blood of children or parents who were diagnosed with methy...
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| Publicado en: | Zhongguo Dang Dai Er Ke Za Zhi |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
中国当代儿科杂志编辑部
2016
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| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7389556/ https://ncbi.nlm.nih.gov/pubmed/27751223 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2016.10.020 |
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