Whole-exome sequencing identified novel DNAH5 homozygous variants in two consanguineous families with primary ciliary dyskinesia.
10.1097/CM9.0000000000002736
- Author:
Binyi YANG
1
;
Cheng LEI
;
Yingjie XU
;
Danhui YANG
;
Chenyang LU
;
Ying LIU
;
Ting GUO
;
Hong LUO
Author Information
1. Department of Pulmonary and Critical Care Medicine, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, China.
- Publication Type:Journal Article
- MeSH:
Humans;
Consanguinity;
Exome Sequencing;
Mutation/genetics*;
Sequence Analysis, DNA;
Ciliary Motility Disorders;
Axonemal Dyneins/genetics*
- From:
Chinese Medical Journal
2024;137(1):115-116
- CountryChina
- Language:English