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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Bibliografische gegevens
Gepubliceerd in:CEN Case Rep
Hoofdauteurs: Aoto, Yuya, Kise, Tomoo, Nakanishi, Koichi, Nagano, China, Horinouchi, Tomoko, Yamamura, Tomohiko, Ishiko, Shinya, Sakakibara, Nana, Shima, Yuko, Morisada, Naoya, Iijima, Kazumoto, Nozu, Kandai
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Springer Singapore 2020
Onderwerpen:
Case Report
Online toegang: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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