A novel nonsense variation in the albumin gene (c.1309 A>T) causing analbuminaemia

被引：2
作者：
Caridi, G. [1 ]
Farokhnia, A. [2 ]
Lugani, F. [1 ]
de Luca, A. M. [2 ]
Campagnoli, M. [3 ]
Galliano, M. [3 ]
Schropfer, D. [2 ]
Minchiotti, L. [3 ]
机构：
[1] Ist Giannina Gaslini IRCCS, Lab Pathophysiol Uremia, Genoa, Italy
[2] Ambulatorium Kanonengasse, Hlth Dept City Zurich, Zurich, Switzerland
[3] Univ Pavia, Dept Mol Med, I-27100 Pavia, Italy
来源：
BRITISH JOURNAL OF BIOMEDICAL SCIENCE | 2021年 / 78卷 / 03期
关键词：
Human serum albumin; congenital analbuminaemia; single-strand conformation polymorphism; heteroduplex analysis; DNA sequencing; nonsense variation;
D O I：
10.1080/09674845.2020.1819632
中图分类号：
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号：
1001 ;
摘要：
[No abstract available]
引用
收藏
页码：154 / 157
页数：4
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