Last Nucleotide Substitutions of COL4A5 Exons Cause Aberrant Splicing

INTRODUCTION: COL4A5 is a causative gene of X-linked Alport syndrome (XLAS). Male patients with XLAS with nonsense variants have the most severe phenotypes of early onset end-stage kidney disease (ESKD); those with splicing variants have middle phenotypes and those with missense variants have the mi...

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Detalles Bibliográficos
Autores principales: Aoto, Yuya, Horinouchi, Tomoko, Yamamura, Tomohiko, Kondo, Atsushi, Nagai, Sadayuki, Ishiko, Shinya, Okada, Eri, Rossanti, Rini, Sakakibara, Nana, Nagano, China, Awano, Hiroyuki, Nagase, Hiroaki, Shima, Yuko, Nakanishi, Koichi, 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/PMC8720670/
https://www.ncbi.nlm.nih.gov/pubmed/35005319
http://dx.doi.org/10.1016/j.ekir.2021.10.012

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