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Whole exome sequencing reveals heparan sulfate proteoglycan 2 (HSPG2) as a potential causative gene for kidney stone disease in a Thai family.

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Title: Whole exome sequencing reveals heparan sulfate proteoglycan 2 (HSPG2) as a potential causative gene for kidney stone disease in a Thai family.
Authors: Praditsap O; Division of Molecular Medicine, Research Department, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand., Ahsan NF; Division of Molecular Medicine, Research Department, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.; Immunology Graduate Program, Department of Immunology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand., Nettuwakul C; Division of Molecular Medicine, Research Department, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand., Sawasdee N; Division of Molecular Medicine, Research Department, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand., Sritippayawan S; Division of Nephrology, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand., Yenchitsomanus PT; Division of Molecular Medicine, Research Department, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand., Rungroj N; Siriraj Genomics, Office of the Dean, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, 10700, Thailand. nanyawan.run@mahidol.ac.th.
Source: Urolithiasis [Urolithiasis] 2024 Dec 16; Vol. 53 (1), pp. 7. Date of Electronic Publication: 2024 Dec 16.
Publication Type: Journal Article
Journal Info: Publisher: Springer Country of Publication: Germany NLM ID: 101602699 Publication Model: Electronic Cited Medium: Internet ISSN: 2194-7236 (Electronic) Linking ISSN: 21947228 NLM ISO Abbreviation: Urolithiasis Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:2194-7236
DOI:10.1007/s00240-024-01674-0