X-Linked Alport Syndrome Caused by Splicing Mutations in COL4A5

BACKGROUND AND OBJECTIVES: X-linked Alport syndrome is caused by mutations in the COL4A5 gene. Although many COL4A5 mutations have been detected, the mutation detection rate has been unsatisfactory. Some men with X-linked Alport syndrome show a relatively mild phenotype, but molecular basis investig...

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Pubblicato in:Clin J Am Soc Nephrol
Autori principali: Nozu, Kandai, Vorechovsky, Igor, Kaito, Hiroshi, Fu, Xue Jun, Nakanishi, Koichi, Hashimura, Yuya, Hashimoto, Fusako, Kamei, Koichi, Ito, Shuichi, Kaku, Yoshitsugu, Imasawa, Toshiyuki, Ushijima, Katsumi, Shimizu, Junya, Makita, Yoshio, Konomoto, Takao, Yoshikawa, Norishige, Iijima, Kazumoto
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society of Nephrology 2014
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Original Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4220764/
https://ncbi.nlm.nih.gov/pubmed/25183659
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2215/CJN.04140414
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