A Novel Mutation in a Japanese Family with X-linked Alport Syndrome

We herein report a novel mutation in a Japanese family with an X-linked Alport syndrome (AS) mutation in COL4A5. Patient 1 was a 2-year-old Japanese girl. She and her mother (patient 2) had a history of proteinuria and hematuria without renal dysfunction, deafness, or ocular abnormalities. Pathologi...

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Bibliografske podrobnosti
izdano v:Intern Med
Main Authors: Abe, Yoshifusa, Iyoda, Masayuki, Nozu, Kandai, Hibino, Satoshi, Hihara, Kei, Yamaguchi, Yutaka, Yamamura, Tomohiko, Minamikawa, Shogo, Iijima, Kazumoto, Shibata, Takanori, Itabashi, Kazuo
Format: Artigo
Jezik:Inglês
Izdano: The Japanese Society of Internal Medicine 2016
Teme:
Case Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5088547/
https://ncbi.nlm.nih.gov/pubmed/27725546
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