Chinese Medical Journal (Nov 2023)

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

  • Lijuan Zhong,
  • Yin Li,
  • Xiaohong He,
  • Subrata Kumar Dey,
  • Quanfu Zhang,
  • Santasree Banerjee,
  • Lishao Guo

DOI
https://doi.org/10.1097/CM9.0000000000002417
Journal volume & issue
Vol. 136, no. 21
pp. 2635 – 2637

Abstract

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