A case with somatic and germline mosaicism in COL4A5 detected by multiplex ligation-dependent probe amplification in X-linked Alport syndrome

X-linked Alport syndrome (XLAS) is a progressive hereditary kidney disease caused by mutations in the COL4A5 gene encoding the type IV collagen α5 chain. To date, 11 cases having somatic mosaic variants in COL4A5 have been reported; however, all of them involved single-nucleotide variations (SNVs)....

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發表在:CEN Case Rep
Main Authors: Aoto, Yuya, Kise, Tomoo, Nakanishi, Koichi, Nagano, China, Horinouchi, Tomoko, Yamamura, Tomohiko, Ishiko, Shinya, Sakakibara, Nana, Shima, Yuko, Morisada, Naoya, Iijima, Kazumoto, Nozu, Kandai
格式: Artigo
語言:Inglês
出版: Springer Singapore 2020
主題:
Case Report
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC7502112/
https://ncbi.nlm.nih.gov/pubmed/32621070
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13730-020-00503-8
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