南方科技大学知识苑(SUSTech KC): Novel mutations in <i>RSPH4A</i> and <i>TTN</i> genes lead to primary ciliary dyskinesia-hereditary myopathy with early respiratory failure overlap syndrome

Title	*Novel mutations in RSPH4A* and TTN genes lead to primary ciliary dyskinesia-hereditary myopathy with early respiratory failure overlap syndrome**
Author	Feng, Mengjie ; Yu, Xiu ; Yue, Yongjian ; Zhong, Jiacheng ; Wang, Lingwei 1
Corresponding Author	Wang, Lingwei
Publication Years	2023-05-01
DOI	10.1016/j.gendis.2022.10.013
Source Title	GENES & DISEASES Impact Factor & Quartile
ISSN	2352-4820
EISSN	2352-3042
Volume	10 Issue:3
URL	[Source Record]
Indexed By	SCI
Language	English
SUSTech Authorship	Others
Funding Project	Sustainable Development Project of Shenzhen Science and Technology Innovation Commission (China)[KCXFZ202002011008256] ; Basic Research Project of Shenzhen Science and Technology Innovation Commission (China)[JCYJ20170307095633450] ; National Natural Science Foundation of China[NSFC81925001]
WOS Research Area	Biochemistry & Molecular Biology ; Genetics & Heredity
WOS Subject	Biochemistry & Molecular Biology ; Genetics & Heredity
WOS Accession No	WOS:001018017800001
Publisher	KEAI PUBLISHING LTD
Data Source	Web of Science
Citation statistics
Document Type	Journal Article
Identifier	http://kc.sustech.edu.cn/handle/2SGJ60CL/583075
Department	Shenzhen People's Hospital
Affiliation	1.Jinan Univ, Shenzhen Peoples Hosp, Clin Med Coll 2, Shenzhen Key Lab Resp Dis,Shenzhen Resp Dis Preven, Shenzhen 518020, Guangdong, Peoples R China 2.Southern Univ Sci & Technol, Affiliated Hosp 1, Shenzhen 518020, Guangdong, Peoples R China
Recommended Citation GB/T 7714	Feng, Mengjie,Yu, Xiu,Yue, Yongjian,et al. Novel mutations in RSPH4A and TTN genes lead to primary ciliary dyskinesia-hereditary myopathy with early respiratory failure overlap syndrome[J]. GENES & DISEASES,2023,10(3).
APA	Feng, Mengjie,Yu, Xiu,Yue, Yongjian,Zhong, Jiacheng,&Wang, Lingwei.(2023).Novel mutations in RSPH4A and TTN genes lead to primary ciliary dyskinesia-hereditary myopathy with early respiratory failure overlap syndrome.GENES & DISEASES,10(3).
MLA	Feng, Mengjie,et al."Novel mutations in RSPH4A and TTN genes lead to primary ciliary dyskinesia-hereditary myopathy with early respiratory failure overlap syndrome".GENES & DISEASES 10.3(2023).

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Novel mutations in RSPH4A and TTN genes lead to primary ciliary dyskinesia-hereditary myopathy with early respiratory failure overlap syndrome