Identification and functional characterization of a novel truncating splicing variant in COL4A5 gene causing X-linked Alport syndrome with astigmatism

Identification and functional characterization of a novel truncating splicing variant in COL4A5 gene causing X-linked Alport syndrome with astigmatism

Bibliographic Details
Main Authors: Lijuan Zhong, Yin Li, Xiaohong He, Subrata Kumar Dey, Quanfu Zhang, Santasree Banerjee, Lishao Guo
Format: Article
Language:English
Published: Wolters Kluwer 2023-11-01
Series:Chinese Medical Journal
Online Access:http://journals.lww.com/10.1097/CM9.0000000000002417

Internet

http://journals.lww.com/10.1097/CM9.0000000000002417

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