Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 2.
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| Title: | Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 2. |
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| Authors: | Toyoda Y; Department of Pharmacy, The University of Tokyo Hospital, Tokyo, Japan., Cho SK; Molecular Genetics Epidemiology Section, Basic Research Laboratory, National Cancer Institute and Frederick National Laboratory for Cancer Research, Frederick, MD, United States.; Department of Pharmacology, Ajou University School of Medicine, Suwon, South Korea., Tasic V; Faculty of Medicine, University Ss. Cyril and Methodius, Skopje, North Macedonia., Pavelcová K; Institute of Rheumatology, Prague, Czechia., Bohatá J; Institute of Rheumatology, Prague, Czechia., Suzuki H; Department of Pharmacy, The University of Tokyo Hospital, Tokyo, Japan., David VA; Department of Pharmacy, The University of Tokyo Hospital, Tokyo, Japan., Yoon J; Cancer and Developmental Biology Laboratory, Center for Cancer Research, National Cancer Institute, Frederick, MD, United States., Pallaiova A; Nephro Dialysis Center, Michalovce, Slovakia., Šaligová J; Metabolic Clinic, Children's Faculty Hospital, Košice, Slovakia., Nousome D; CCR Collaborative Bioinformatics Resource, Center for Cancer Research, National Cancer Institute, Frederick, MD, United States., Cachau R; Integrated Data Science Section, Research Technologies Branch, National Institute of Allergies and Infectious Diseases, Bethesda, MD, United States., Winkler CA; Molecular Genetics Epidemiology Section, Basic Research Laboratory, National Cancer Institute and Frederick National Laboratory for Cancer Research, Frederick, MD, United States., Takada T; Department of Pharmacy, The University of Tokyo Hospital, Tokyo, Japan., Stibůrková B; Institute of Rheumatology, Prague, Czechia.; Department of Rheumatology, First Faculty of Medicine, Charles University, Prague, Czechia.; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czechia. |
| Source: | Frontiers in genetics [Front Genet] 2023 Jan 17; Vol. 13, pp. 1048330. Date of Electronic Publication: 2023 Jan 17 (Print Publication: 2022). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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