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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Bibliographic Details
Published in: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
Format: Artigo
Language:Inglês
Published: Springer Singapore 2020
Subjects:
Case Report
Online Access: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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