Molecular dynamics and minigene assay of new splicing variant c.4298-20T>A of COL4A5 gene that cause Alport syndrome
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DOI: 10.3389/fgene.2023.1059322
Abstract: 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),… read more here.
Keywords: splicing variant; col4a5 gene; variant col4a5; gene ... See more keywords