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FilenameFormatSizeDescription
cge12372-sup-0001-AppendixS1.docxWord 2007 document19KAppendix S1. Details in Patients and Methods.
cge12372-sup-0002-TableS1.xlsxExcel 2007 spreadsheet14KTable S1. Definitely pathogenic mutations (truncating mutations) detected in this study
cge12372-sup-0003-TableS2.xlsxExcel 2007 spreadsheet17KTable S2. Missense variants evaluated using in slico programs
cge12372-sup-0004-TableS3.xlsxExcel 2007 spreadsheet10KTable S3. Likely pathogenic variants of in-frame change detected in this study
cge12372-sup-0005-TableS4.xlsxExcel 2007 spreadsheet12KTable S4. Results of the in silico prediction and minigene splicing assay for the atypical splice mutations detected in this study
cge12372-sup-0006-TableS5.xlsxExcel 2007 spreadsheet11KTable S5. Comparison between the present Japanese study and European/American studies
cge12372-sup-0007-TableS6.xlsxExcel 2007 spreadsheet10KTable S6. Primers for long-range polymerase chain reaction (PCR)
cge12372-sup-0008-TableS7.xlsxExcel 2007 spreadsheet11KTable S7. Primers for nested polymerase chain reaction (PCR)
cge12372-sup-0009-TableS8.xlsxExcel 2007 spreadsheet11KTable S8. Primers for unique region of PKD1 and PKD2
cge12372-sup-0010-TableS9.xlsxExcel 2007 spreadsheet11KTable S9. Primers for quantitative polymerase chain reaction (PCR)
cge12372-sup-0011-TableS10.xlsxExcel 2007 spreadsheet12KTable S10. Thirteen variants co-existed with truncating mutation in the same patients
cge12372-sup-0012-TableS11.xlsxExcel 2007 spreadsheet9KTable S11. Detail information about PKD2 c.2668G>A (p.Glu890Lys)
cge12372-sup-0013-FigureS1.pptxPowerPoint 2007 presentation67KFigure S1. Analyzed genomic region for quantitative polymerase chain reaction (PCR) to detect large genomic rearrangements.
cge12372-sup-0014-FigureS2.pptxPowerPoint 2007 presentation205KFigure S2. A large genomic rearrangement within the PKD1 locus identified in Japanese autosomal dominant polycystic kidney disease (ADPKD) using multiplex ligation-dependent probe amplification (MLPA) assay.

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