Functional characterization of a JAG1 5'UTR variant in a patient with clinically observed Alagille syndrome

被引：1
|
作者：
Buhl, Nicole [1 ,2 ]
Pfister, Eva-Doreen [1 ]
Bohne, Jens [3 ]
Baumann, Ulrich [1 ]
Hartleben, Bjoern [4 ]
Schlegelberger, Brigitte [2 ]
Illig, Thomas [5 ]
Skawran, Britta [2 ]
Stalke, Amelie [1 ,2 ]
机构：
[1] Hannover Med Sch, Dept Pediat Liver Kidney & Metab Dis, Div Pediat Gastroenterol & Hepatol, Hannover, Germany
[2] Hannover Med Sch, Dept Human Genet, Hannover, Germany
[3] Hannover Med Sch, Inst Virol, Hannover, Germany
[4] Hannover Med Sch, Inst Pathol, Hannover, Germany
[5] Hannover Med Sch, Hannover Unified Biobank, Hannover, Germany
来源：
CLINICAL GENETICS | 2022年 / 102卷 / 03期
关键词：
D O I：
10.1111/cge.14179
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：248 / 250
页数：3
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