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Year | Number of Results |
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1999 | 1 |
2007 | 1 |
2015 | 2 |
2021 | 1 |
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Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene.
Hum Genet. 1999 Jun;104(6):523-5. doi: 10.1007/s004390050998.
Hum Genet. 1999.
PMID: 10453743
Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.
Monico CG, Rossetti S, Schwanz HA, Olson JB, Lundquist PA, Dawson DB, Harris PC, Milliner DS.
Monico CG, et al.
J Am Soc Nephrol. 2007 Jun;18(6):1905-14. doi: 10.1681/ASN.2006111230. Epub 2007 Apr 25.
J Am Soc Nephrol. 2007.
PMID: 17460142
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Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing.
Williams EL, Bagg EA, Mueller M, Vandrovcova J, Aitman TJ, Rumsby G.
Williams EL, et al.
Mol Genet Genomic Med. 2015 Jan;3(1):69-78. doi: 10.1002/mgg3.118.
Mol Genet Genomic Med. 2015.
PMID: 25629080
Free PMC article.
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Left Lateral Sectionectomy of the Native Liver and Combined Living-Related Liver-Kidney Transplantation for Primary Hyperoxaluria Type 1.
Chen GY, Wei SD, Zou ZW, Tang GF, Sun JJ, Zhou ST.
Chen GY, et al.
Medicine (Baltimore). 2015 Aug;94(31):e1267. doi: 10.1097/MD.0000000000001267.
Medicine (Baltimore). 2015.
PMID: 26252291
Free PMC article.
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A novel nonsense variant of the AGXT identified in a Chinese family: special variant research in the Chinese reference genome.
Xu CB, Zhou XD, Xu HE, Zhao YL, Zhao XH, Liu DH, Tian YA, Hu XX, Guan JY, Guo JC, Tang WX, Xue X.
Xu CB, et al.
BMC Nephrol. 2021 Mar 10;22(1):83. doi: 10.1186/s12882-021-02276-3.
BMC Nephrol. 2021.
PMID: 33691640
Free PMC article.
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