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进行性家族性肝内胆汁淤积症1型1例临床特点和ATP8B1基因突变分析
Progressive familial intrahepatic cholestasis type Ⅰ (PFIC1) is an autosomal recessive disorder caused by biallelic mutations of ATP8B1 gene, with progressive cholestasis as the main clinical manifestation. This paper reports the clinical and genetic features of a PFIC1 patient definitely diagnosed...
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| Publicat a: | Zhongguo Dang Dai Er Ke Za Zhi |
|---|---|
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
中国当代儿科杂志编辑部
2016
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7399514/ https://ncbi.nlm.nih.gov/pubmed/27530795 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2016.08.016 |
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