A novel splicing mutation DNAH5 c.13,338 + 5G > C is involved in the pathogenesis of primary ciliary dyskinesia in a family with primary familial brain calcification.
Saved in:
| Title: | A novel splicing mutation DNAH5 c.13,338 + 5G > C is involved in the pathogenesis of primary ciliary dyskinesia in a family with primary familial brain calcification. |
|---|---|
| Authors: | Yao XJ; Fujian Provincial Hospital, Shengli Clinical Medical College of Fujian Medical University, no. 134 East Street, Fuzhou, 350001, China.; Respiratory department, Fujian Provincial Hospital, Fuzhou, China., Chen Q; Fujian Provincial Hospital, Shengli Clinical Medical College of Fujian Medical University, no. 134 East Street, Fuzhou, 350001, China., Yu HP; Fujian Provincial Hospital, Shengli Clinical Medical College of Fujian Medical University, no. 134 East Street, Fuzhou, 350001, China., Ruan DD; Fujian Provincial Hospital, Shengli Clinical Medical College of Fujian Medical University, no. 134 East Street, Fuzhou, 350001, China., Li SJ; Fujian Provincial Hospital, Shengli Clinical Medical College of Fujian Medical University, no. 134 East Street, Fuzhou, 350001, China., Wu M; Fujian Provincial Hospital, Shengli Clinical Medical College of Fujian Medical University, no. 134 East Street, Fuzhou, 350001, China., Liao LS; Fujian Provincial Hospital, Shengli Clinical Medical College of Fujian Medical University, no. 134 East Street, Fuzhou, 350001, China.; Department of Hematology, Fujian Provincial Hospital, Fuzhou, China., Lin XF; Fujian Provincial Hospital, Shengli Clinical Medical College of Fujian Medical University, no. 134 East Street, Fuzhou, 350001, China.; Pediatrics department, Fujian Provincial Hospital, Fuzhou, China., Fang ZT; Fujian Provincial Hospital, Shengli Clinical Medical College of Fujian Medical University, no. 134 East Street, Fuzhou, 350001, China. 470389481@qq.com.; Interventional Department, Fujian Provincial Hospital, Fuzhou, China. 470389481@qq.com., Luo JW; Fujian Provincial Hospital, Shengli Clinical Medical College of Fujian Medical University, no. 134 East Street, Fuzhou, 350001, China. docluo0421@aliyun.com.; Department of Traditional Chinese Medicine, Fujian Provincial Hospital, Fuzhou, China. docluo0421@aliyun.com., Xie BS; Fujian Provincial Hospital, Shengli Clinical Medical College of Fujian Medical University, no. 134 East Street, Fuzhou, 350001, China. xbaosong@126.com.; Respiratory department, Fujian Provincial Hospital, Fuzhou, China. xbaosong@126.com. |
| Source: | BMC pulmonary medicine [BMC Pulm Med] 2024 Jul 16; Vol. 24 (1), pp. 343. Date of Electronic Publication: 2024 Jul 16. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 100968563 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2466 (Electronic) Linking ISSN: 14712466 NLM ISO Abbreviation: BMC Pulm Med Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
|
Full text is not displayed to guests.
Login for full access.
|
|
| ISSN: | 1471-2466 |
|---|---|
| DOI: | 10.1186/s12890-024-03164-w |
