Missense mutations in COL4A5 or COL4A6 genes may cause cerebrovascular fibromuscular dysplasia: Case report and literature review

INTRODUCTION: Fibromuscular dysplasia (FMD) is a rare and controversial disease that is seldom associated with genes. Here, we report the discovery of 2 missense mutations in COL4A5 and COL4A6 that may be risk factors for causing cerebrovascular FMD. We performed high-throughput sequencing on a pati...

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Detalles Bibliográficos
Autores principales: Wang, Xiaojuan, Li, Wei, Wei, Ke, Xiao, Rui, Wang, Juntao, Ma, Haichang, Qin, Lingzhi, Shao, Wenjun, Li, Chunyang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6078732/
https://www.ncbi.nlm.nih.gov/pubmed/30045277
http://dx.doi.org/10.1097/MD.0000000000011538

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