Two case reports of inherited AT deficiency : a novel frame shift mutation and a large deletion including all seven exons detected using two methods.
Two case reports of inherited AT deficiency : a novel frame shift mutation and a large deletion including all seven exons detected using two methods.
复制标题
遗传性 AT 缺陷的两例病例报告:一种新的移码突变和使用两种方法检测到的包括所有七个外显子的大缺失。
作者:
Sekiya A;Asakura H;et al.
影响因子:
6.7
作者:
Y. Chinthammitr;Worrawut Chinchang;T. Ruchutrakool;V. Viprakasit
通讯作者:
V. Viprakasit
影响因子:
20.3
作者:
B. Sanson;P. Simioni;D. Tormene;M. Moia;P. Friederich;M. Huisman;P. Prandoni;A. Bura;L. Rejtő;P. Wells;P. Mannucci;A. Girolami;H. Büller;M. Prins
通讯作者:
M. Prins