Molecular dynamics and minigene assay of new splicing variant c.4298-20T>A of COL4A5 gene that cause Alport syndrome

Molecular dynamics and minigene assay of new splicing variant c.4298-20T>A of COL4A5 gene that cause Alport syndrome

Introduction: Alport syndrome (AS; OMIM#308940) is a progressive hereditary kidney disease characterized by hearing loss and ocular abnormalities. According to the mode of inheritance, AS has three subtypes: X-linked (XL; OMIM#301050), autosomal recessive (AR; OMIM#203780), and autosomal dominant (A...

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Bibliographic Details
Main Authors: Lei Liang, Haotian Wu, Zeyu Cai, Jianrong Zhao
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-02-01
Series:Frontiers in Genetics
Subjects:
alport syndrome
COL4A5
splicing variant
minigene assay
molecular dynamics
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1059322/full

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https://www.frontiersin.org/articles/10.3389/fgene.2023.1059322/full

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