Whole-genome sequencing identified a deep intronic COL4A5 variant causing aberrant splicing in a female patient with X-linked Alport syndrome

CEN Case Reports 2026 Open access

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Authors: China Nagano, Shuhei Aoyama, Yuka Kimura, Yuta Inoki, Nana Sakakibara, Tomoko Horinouchi, Tomohiko Yamamura, Shingo Ishimori, Kandai Nozu
DOI: 10.1007/s13730-025-01073-3
Cited by: 1
References: 19

Fields of Study & Subjects

Cell Adhesion Molecules Research Renal and related cancers Skin and Cellular Biology Research

Publication details

Journal / source
CEN Case Reports
Publisher
Springer Science and Business Media LLC
Volume
15
Issue
1
Pages
8–8
Publication date
3 January 2026
Language
EN