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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:CEN Case Rep
Egile Nagusiak: Aoto, Yuya, Kise, Tomoo, Nakanishi, Koichi, Nagano, China, Horinouchi, Tomoko, Yamamura, Tomohiko, Ishiko, Shinya, Sakakibara, Nana, Shima, Yuko, Morisada, Naoya, Iijima, Kazumoto, Nozu, Kandai
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Springer Singapore 2020
Gaiak:
Case Report
Sarrera elektronikoa: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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