Next-generation Sequencing Facilitates the Diagnosis in a Child With Twinkle Mutations Causing Cholestatic Liver Failure

被引：27

作者：

Goh, Vi ^{[1
]}

Helbling, Daniel ^{[1
]}

Biank, Vincent ^{[1
]}

Jarzembowski, Jason ^{[2
]}

Dimmock, David ^{[1
]}

机构：

[1] Med Coll Wisconsin, Dept Pediat, Milwaukee, WI 53221 USA

[2] Med Coll Wisconsin, Dept Pathol, Milwaukee, WI 53221 USA

来源：

JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION | 2012年 / 54卷 / 02期

关键词：

MITOCHONDRIAL-DNA DEPLETION; N-ACETYLCYSTEINE; TRANSPLANT; SURVIVAL; FEATURES;

D O I：

10.1097/MPG.0b013e318227e53c

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

[No abstract available]

引用

页码：291 / 294

页数：4

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