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Genotype-Phenotype Correlations for Pathogenic COL4A3–COL4A5 Variants in X-Linked, Autosomal Recessive, and Autosomal Dominant Alport Syndrome

Alport syndrome is inherited as an X-linked (XL), autosomal recessive (AR), or autosomal dominant (AD) disease, where pathogenic COL4A3 – COL4A5 variants affect the basement membrane collagen IV α3α4α5 network. About 50% of pathogenic variants in each gene (major rearrangements and large deletions i...

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Detalles Bibliográficos
Autores principales: Savige, Judy, Huang, Mary, Croos Dabrera, Marina Shenelli, Shukla, Krushnam, Gibson, Joel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9120524/
https://www.ncbi.nlm.nih.gov/pubmed/35602506
http://dx.doi.org/10.3389/fmed.2022.865034

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