Cargando…
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...
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 |
Ejemplares similares
-
Author Correction: mRNA analysis identifies deep intronic variants causing Alport syndrome and overcomes the problem of negative results of exome sequencing
por: Wang, Xiaoyuan, et al.
Publicado: (2021) -
Pathogenic variants of Alport syndrome and monogenic diabetes identified by exome sequencing in a family
por: Watanabe, Hirofumi, et al.
Publicado: (2023) -
Compound Heterozygous Missense and Deep Intronic Variants in NDUFAF6 Unraveled by Exome Sequencing and mRNA Analysis
por: Catania, Alessia, et al.
Publicado: (2018) -
Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis
por: Chiereghin, Chiara, et al.
Publicado: (2017) -
A deep intronic splice variant of the COL4A5 gene in a Chinese family with X-linked Alport syndrome
por: Qian, Pei, et al.
Publicado: (2023)