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

Detalles Bibliográficos
Autores principales: Feng, Mengjie, Yu, Xiu, Yue, Yongjian, Zhong, Jiacheng, Wang, Lingwei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Chongqing Medical University 2022
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10308159/
https://www.ncbi.nlm.nih.gov/pubmed/37396529
http://dx.doi.org/10.1016/j.gendis.2022.10.013
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author Feng, Mengjie
Yu, Xiu
Yue, Yongjian
Zhong, Jiacheng
Wang, Lingwei
author_facet Feng, Mengjie
Yu, Xiu
Yue, Yongjian
Zhong, Jiacheng
Wang, Lingwei
author_sort Feng, Mengjie
collection PubMed
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spelling pubmed-103081592023-06-30 Novel mutations in RSPH4A and TTN genes lead to primary ciliary dyskinesia-hereditary myopathy with early respiratory failure overlap syndrome Feng, Mengjie Yu, Xiu Yue, Yongjian Zhong, Jiacheng Wang, Lingwei Genes Dis Rapid Communication Chongqing Medical University 2022-10-29 /pmc/articles/PMC10308159/ /pubmed/37396529 http://dx.doi.org/10.1016/j.gendis.2022.10.013 Text en © 2022 The Authors. Publishing services by Elsevier B.V. on behalf of KeAi Communications Co., Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Rapid Communication
Feng, Mengjie
Yu, Xiu
Yue, Yongjian
Zhong, Jiacheng
Wang, Lingwei
Novel mutations in RSPH4A and TTN 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
title_full Novel mutations in RSPH4A and TTN genes lead to primary ciliary dyskinesia-hereditary myopathy with early respiratory failure overlap syndrome
title_fullStr Novel mutations in RSPH4A and TTN genes lead to primary ciliary dyskinesia-hereditary myopathy with early respiratory failure overlap syndrome
title_full_unstemmed Novel mutations in RSPH4A and TTN genes lead to primary ciliary dyskinesia-hereditary myopathy with early respiratory failure overlap syndrome
title_short Novel mutations in RSPH4A and TTN genes lead to primary ciliary dyskinesia-hereditary myopathy with early respiratory failure overlap syndrome
title_sort novel mutations in rsph4a and ttn genes lead to primary ciliary dyskinesia-hereditary myopathy with early respiratory failure overlap syndrome
topic Rapid Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10308159/
https://www.ncbi.nlm.nih.gov/pubmed/37396529
http://dx.doi.org/10.1016/j.gendis.2022.10.013
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