Whole-exome sequencing identified novel DNAH5 homozygous variants in two consanguineous families with primary ciliary dyskinesia.
- Author:
Binyi YANG
1
;
Cheng LEI
;
Yingjie XU
;
Danhui YANG
;
Chenyang LU
;
Ying LIU
;
Ting GUO
;
Hong LUO
Author Information
- 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