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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...
Shranjeno v:
| izdano v: | Medicine (Baltimore) |
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| Main Authors: | , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Wolters Kluwer Health
2018
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6078732/ https://ncbi.nlm.nih.gov/pubmed/30045277 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000011538 |
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