Article

The analysis of X-linked Alport syndrome caused by a novel COL4A5 gene aberrant splicing

2022-11-29

Abstract excerpt

<h4>Objective: </h4> To analyze a novel splicing mutation site in COL4A5 gene in a Chinese X-linked Alport syndrome family, and to show the clinical symptoms in proband and his family, in order to provide a basis for the diagnosis and genetic counseling of the disease. <h4>Methods: </h4> Proband's clinical data were collected from electronic medical records. The underlying genetic causes of AS patients were identi...

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Literature Corpus work: e09dc59e-0f69-51cc-bb1f-3909c62539b5
DOI: 10.21203/rs.3.rs-2299497/v1

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