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)....

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:CEN Case Rep
Κύριοι συγγραφείς: Aoto, Yuya, Kise, Tomoo, Nakanishi, Koichi, Nagano, China, Horinouchi, Tomoko, Yamamura, Tomohiko, Ishiko, Shinya, Sakakibara, Nana, Shima, Yuko, Morisada, Naoya, Iijima, Kazumoto, Nozu, Kandai
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Springer Singapore 2020
Θέματα:
Case Report
Διαθέσιμο Online: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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