Clinical and genetic analysis of classical Ehlers‐Danlos syndrome patient caused by synonymous mutation in COL5A2

BACKGROUND: Classical Ehlers‐Danlos syndrome (cEDS) is a heterogeneous connective tissue disorder that mainly results from the germline mutation of COL5A1 and COL5A2. The majority of the COL5A2 mutations reported to date represent structural mutations, including missense or in‐frame exon‐skipping sp...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Ma, Na, Zhu, Zhenhua, Liu, Jing, Peng, Ying, Zhao, Xiaomeng, Tang, Weiling, Jia, Zhengjun, Xi, Hui, Gao, Bodi, Wang, Hua, Du, Juan
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2021
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8172199/
https://ncbi.nlm.nih.gov/pubmed/33834621
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1632
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