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两名阿曼同胞发生肝内胆汁淤积症，与一种新的纯合突变c.379C>G（p.L127V）相关。

Intrahepatic cholestasis in two omani siblings associated with a novel homozygous mutation, c.379C>G (p.L127V).

作者信息

Narchi Hassib, Alhefeiti Suhailah, Althabahi Fatmah, Hertecant Jozef, Knisely A S, Souid Abdul-Kader

机构信息

Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, United Arab Emirates.

Department of Pediatrics, Tawam Hospital, United Arab Emirates.

出版信息

Saudi J Gastroenterol. 2017 Sep-Oct;23(5):303-305. doi: 10.4103/sjg.SJG_178_17.

DOI:10.4103/sjg.SJG_178_17
PMID:28937026
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5625368/
Abstract

We report two Omani brothers with intrahepatic cholestasis that resolved with supportive care. In one, cholestasis began in infancy; in the other, only at the age of 18 months. Whole exome sequencing identified a novel homozygous variant, c.379C>G (p.L127V) in ATP8B1. Those attending patients with cholestasis from the Arabian peninsula should be aware of this mutation and of the variation in its phenotypic effects.

摘要

我们报告了两名患有肝内胆汁淤积症的阿曼兄弟，他们通过支持性治疗后病情得到缓解。其中一人的胆汁淤积症始于婴儿期；另一人则在18个月大时才出现。全外显子组测序在ATP8B1基因中发现了一个新的纯合变异，即c.379C>G（p.L127V）。来自阿拉伯半岛的胆汁淤积症患者应了解这种突变及其表型效应的差异。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3e38/5625368/1421f7fda948/SJG-23-303-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3e38/5625368/1421f7fda948/SJG-23-303-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3e38/5625368/1421f7fda948/SJG-23-303-g001.jpg

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Indian Pediatr. 2016 Dec 15;53(12):1099-1101.
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