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The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport Syndrome

X-linked Alport syndrome (XLAS) is caused by pathogenic variants in COL4A5 and is characterized by progressive kidney disease, hearing loss, and ocular abnormalities. Recent advances in genetic analysis and further understanding of genotype-phenotype correlations in affected male patients raises the...

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Detalles Bibliográficos
Autores principales:	Yamamura, Tomohiko, Horinouchi, Tomoko, Aoto, Yuya, Lennon, Rachel, Nozu, Kandai
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Medicine
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8861460/ https://www.ncbi.nlm.nih.gov/pubmed/35211492 http://dx.doi.org/10.3389/fmed.2022.841391

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