Comprehensive Splice Pattern Analysis for Previously Reported OCRL Splicing Variants and Their Phenotypic Contributions

Introduction: Two distinct phenotypes of Dent disease-2 and Lowe syndrome are caused by oculocerebrorenal syndrome of Lowe (OCRL) abnormality. Previous genetic studies demonstrated that truncating variants in exons 1 to 7 results in Dent disease-2 and in exons 8 to 24, result in Lowe syndrome. Recen...

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Główni autorzy:	Rini Rossanti, Eri Okada, Nana Sakakibara, Ryota Suzuki, Yuta Inoki, Yuta Ichikawa, Yu Tanaka, Hideaki Kitakado, Chika Ueda, Atsushi Kondo, Yuya Aoto, China Nagano, Tomoko Horinouchi, Tomohiko Yamamura, Shingo Ishimori, Kandai Nozu
Format:	Artigo
Język:	Inglês
Wydane:	Elsevier 2025-05-01
Seria:	Kidney International Reports
Hasła przedmiotowe:	Dent disease-2 isoform Lowe syndrome minigene system OCRL Splicing
Dostęp online:	http://www.sciencedirect.com/science/article/pii/S2468024925001135
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