Unexpected partial RNA deletion by two different novel COL6A2 mutations leads to Ullrich congenital muscular dystrophy

被引：0
|
作者：
Xu, S. [1 ]
Li, L. [2 ,3 ]
Shen, L. [2 ,3 ]
Wang, X. [2 ,3 ]
Feng, W. [1 ]
Liu, S. [2 ,3 ,4 ]
机构：
[1] Qingdao Univ, Affiliated Hosp, Dept Anesthesiol, Qingdao, Peoples R China
[2] Qingdao Univ, Affiliated Hosp, Med Genet Dept, Qingdao, Peoples R China
[3] Qingdao Univ, Affiliated Hosp, Prenatal Diag Ctr, Qingdao, Peoples R China
[4] Qingdao Univ, Affiliated Hosp, Med Genet Dept, 16 Jiangsu Rd, Qingdao, Shandong, Peoples R China
来源：
QJM-AN INTERNATIONAL JOURNAL OF MEDICINE | 2024年 / 117卷 / 01期
基金：
中国国家自然科学基金;
关键词：
D O I：
10.1093/qjmed/hcad209
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
[No abstract available]
引用
收藏
页码：61 / 62
页数：2
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