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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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Bibliografiske detaljer
Udgivet i:Zhongguo Dang Dai Er Ke Za Zhi
Format: Artigo
Sprog:Inglês
Udgivet: 中国当代儿科杂志编辑部 2016
Fag:
Online adgang: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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