Systematic Review of Genotype-Phenotype Correlations in Frasier Syndrome

INTRODUCTION: Frasier syndrome (FS) is a rare inherited kidney disease caused by intron 9 splicing variants of WT1. For wild-type WT1, 2 active splice donor sites in intron 9 cause a mixture of 2 essential transcripts (with or without lysine-threonine-serine [+/KTS or −KTS]), and imbalance of the +K...

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Detalles Bibliográficos
Autores principales: Tsuji, Yurika, Yamamura, Tomohiko, Nagano, China, Horinouchi, Tomoko, Sakakibara, Nana, Ishiko, Shinya, Aoto, Yuya, Rossanti, Rini, Okada, Eri, Tanaka, Eriko, Tsugawa, Koji, Okamoto, Takayuki, Sawai, Toshihiro, Araki, Yoshinori, Shima, Yuko, Nakanishi, Koichi, Nagase, Hiroaki, Matsuo, Masafumi, Iijima, Kazumoto, Nozu, Kandai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Clinical Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8484119/
https://www.ncbi.nlm.nih.gov/pubmed/34622098
http://dx.doi.org/10.1016/j.ekir.2021.07.010

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