Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome

BACKGROUND: X-linked Alport syndrome (XLAS) is a progressive hereditary nephropathy caused by mutations in the COL4A5 gene. Genotype-phenotype correlation in male XLAS is relatively well established; relative to truncating mutations, nontruncating mutations exhibit milder phenotypes. However, transc...

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Pubblicato in:J Am Soc Nephrol
Autori principali: Horinouchi, Tomoko, Nozu, Kandai, Yamamura, Tomohiko, Minamikawa, Shogo, Omori, Takashi, Nakanishi, Keita, Fujimura, Junya, Ashida, Akira, Kitamura, Mineaki, Kawano, Mitsuhiro, Shimabukuro, Wataru, Kitabayashi, Chizuko, Imafuku, Aya, Tamagaki, Keiichi, Kamei, Koichi, Okamoto, Kenjirou, Fujinaga, Shuichiro, Oka, Masafumi, Igarashi, Toru, Miyazono, Akinori, Sawanobori, Emi, Fujimaru, Rika, Nakanishi, Koichi, Shima, Yuko, Matsuo, Masafumi, Ye, Ming Juan, Nozu, Yoshimi, Morisada, Naoya, Kaito, Hiroshi, Iijima, Kazumoto
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society of Nephrology 2018
Soggetti:
Clinical Research
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6065097/
https://ncbi.nlm.nih.gov/pubmed/29959198
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2018030228
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