Associated Papers
Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported.
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Supplement: sfaf194_Supplemental_File.docx
A novel nonsense variant of the AGXT identified in a Chinese family: special variant research in the Chinese reference genome.
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Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing.
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Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1.
Williams E et al.
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The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1.
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Molecular Genetics and Metabolism, 0
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