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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.

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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
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  Data: 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.
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  Data: <searchLink fieldCode="AU" term="%22Yao+XJ%22">Yao XJ</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Chen+Q%22">Chen Q</searchLink>; Fujian Provincial Hospital, Shengli Clinical Medical College of Fujian Medical University, no. 134 East Street, Fuzhou, 350001, China.<br /><searchLink fieldCode="AU" term="%22Yu+HP%22">Yu HP</searchLink>; Fujian Provincial Hospital, Shengli Clinical Medical College of Fujian Medical University, no. 134 East Street, Fuzhou, 350001, China.<br /><searchLink fieldCode="AU" term="%22Ruan+DD%22">Ruan DD</searchLink>; Fujian Provincial Hospital, Shengli Clinical Medical College of Fujian Medical University, no. 134 East Street, Fuzhou, 350001, China.<br /><searchLink fieldCode="AU" term="%22Li+SJ%22">Li SJ</searchLink>; Fujian Provincial Hospital, Shengli Clinical Medical College of Fujian Medical University, no. 134 East Street, Fuzhou, 350001, China.<br /><searchLink fieldCode="AU" term="%22Wu+M%22">Wu M</searchLink>; Fujian Provincial Hospital, Shengli Clinical Medical College of Fujian Medical University, no. 134 East Street, Fuzhou, 350001, China.<br /><searchLink fieldCode="AU" term="%22Liao+LS%22">Liao LS</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Lin+XF%22">Lin XF</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Fang+ZT%22">Fang ZT</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Luo+JW%22">Luo JW</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Xie+BS%22">Xie BS</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%22100968563%22">BMC pulmonary medicine</searchLink> [BMC Pulm Med] 2024 Jul 16; Vol. 24 (1), pp. 343. <i>Date of Electronic Publication: </i>2024 Jul 16.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>100968563 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1471-2466 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214712466%22">14712466 </searchLink><i>NLM ISO Abbreviation: </i>BMC Pulm Med <i>Subsets: </i>MEDLINE
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              Text: 2024 Jul 16
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