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mRNA analysis identifies deep intronic variants causing Alport syndrome and overcomes the problem of negative results of exome sequencing

Mutations in COL4A3, COL4A4 and COL4A5 genes lead to Alport syndrome (AS). However, pathogenic variants in some AS patients are not detected by exome sequencing. The aim of this study was to identify the underlying genetic causes of five unrelated AS probands with negative next-generation sequencing...

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Detalles Bibliográficos
Autores principales: Wang, Xiaoyuan, Zhang, Yanqin, Ding, Jie, Wang, Fang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8433132/
https://www.ncbi.nlm.nih.gov/pubmed/34508137
http://dx.doi.org/10.1038/s41598-021-97414-0