Pathogenic evaluation of synonymous COL4A5 variants in X‐linked Alport syndrome using a minigene assay

Pathogenic evaluation of synonymous COL4A5 variants in X‐linked Alport syndrome using a minigene assay

Abstract Background X‐linked Alport syndrome (XLAS) is a progressive, hereditary glomerular nephritis of variable severity caused by pathogenic COL4A5 variants. Currently, genetic testing is widely used for diagnosing XLAS; however, determining the pathogenicity of variants detected by such analyses...

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Detalhes bibliográficos
Principais autores: Tomoko Horinouchi, Tomohiko Yamamura, Shogo Minamikawa, China Nagano, Nana Sakakibara, Koichi Nakanishi, Yuko Shima, Naoya Morisada, Shinya Ishiko, Yuya Aoto, Hiroaki Nagase, Hiroki Takeda, Rini Rossanti, Shingo Ishimori, Hiroshi Kaito, Masafumi Matsuo, Kazumoto Iijima, Kandai Nozu
Formato: Artigo
Idioma:English
Publicado em: Wiley 2020-08-01
coleção:Molecular Genetics & Genomic Medicine
Assuntos:
aberrant splicing
mild phenotype
splicing assay
synonymous variant
X‐linked Alport syndrome
Acesso em linha:https://doi.org/10.1002/mgg3.1342

Internet

https://doi.org/10.1002/mgg3.1342

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