Whole-exome sequencing identified novel DNAH5 homozygous variants in two consanguineous families with primary ciliary dyskinesia

Chin Med J (Engl). 2024 Jan 5;137(1):115-116. doi: 10.1097/CM9.0000000000002736. Epub 2023 Jun 16.

Authors

Binyi Yang¹, Cheng Lei, Yingjie Xu, Danhui Yang, Chenyang Lu, Ying Liu, Ting Guo, Hong Luo

Affiliation

¹ Department of Pulmonary and Critical Care Medicine, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, China.

No abstract available

MeSH terms

Axonemal Dyneins / genetics
Ciliary Motility Disorders*
Consanguinity
Exome Sequencing
Humans
Mutation / genetics
Sequence Analysis, DNA

Substances

DNAH5 protein, human
Axonemal Dyneins