Article

Molecular dynamics and minigene assay of a splicing COL4A5 gene variant causing Alport syndrome

2022-12-20

Abstract excerpt

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 (AD; OMIM#104200). XLAS is caused by a pathogenic variant in COL4A5 (OMIM*303630) gene encoding type IV collagen (Col-IV) α5 chain, w...

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Literature Corpus work: 2c10b20b-5524-5898-adc2-e9608e864436
DOI: 10.21203/rs.3.rs-2104716/v1

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