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1例Bartter综合征的家系基因突变分析和产前诊断
OBJECTIVE: To investigate the mutation of related genes and prenatal diagnosis of a family with Bartter syndrome (BS). METHODS: The high-throughput capture sequencing technique and PCR-Sanger sequencing were used to detect pathogenic genes in the proband of this family and analyze the whole family a...
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| Pubblicato in: | Zhongguo Dang Dai Er Ke Za Zhi |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
中国当代儿科杂志编辑部
2016
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7399506/ https://ncbi.nlm.nih.gov/pubmed/27530794 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2016.08.015 |
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