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1个Alagille综合征家系中JAG1基因新突变的识别
Alagille syndrome (ALGS) is an autosomal dominant disorder which is mainly caused by JAG1 gene mutation and can affect multiple systems including the liver, heart, eyes, skeleton and face. This paper reports the clinical and genetic features of an ALGS patient. A 2-year-and-9-month-old boy was refer...
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| Publicado no: | Zhongguo Dang Dai Er Ke Za Zhi |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
中国当代儿科杂志编辑部
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7389856/ https://ncbi.nlm.nih.gov/pubmed/27817779 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2016.11.015 |
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