SHROOM3 の非コーディングシグネチャーは,ファブリー病の腎臓疾患の進行と関連している
Tina Levstek1, Nika Breznik2, Kaja Balant Marin2
1Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia; Clinical Institute for Special Laboratory Diagnostics, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Molecular genetics and metabolism
|January 3, 2026
まとめ
No abstract available in PubMed .
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