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A novel splice-acceptor site mutation (IVS13-2A>T) of polycystic kidney disease 1 (PKD1) gene resulting in an RNA processing defect with a 74-nucleotide deletion in exon 14 of the mRNA transcript.
Thongnoppakhun A, Rungroj N, Wilairat P, Vareesangthip K, Sirinavin C, Yenchitsomanus PT. Thongnoppakhun A, et al. Among authors: rungroj n. Hum Mutat. 2000 Jan;15(1):115. doi: 10.1002/(SICI)1098-1004(200001)15:1<115::AID-HUMU22>3.0.CO;2-Z. Hum Mutat. 2000. PMID: 10612835
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
Stover EH, Borthwick KJ, Bavalia C, Eady N, Fritz DM, Rungroj N, Giersch AB, Morton CC, Axon PR, Akil I, Al-Sabban EA, Baguley DM, Bianca S, Bakkaloglu A, Bircan Z, Chauveau D, Clermont MJ, Guala A, Hulton SA, Kroes H, Li Volti G, Mir S, Mocan H, Nayir A, Ozen S, Rodriguez Soriano J, Sanjad SA, Tasic V, Taylor CM, Topaloglu R, Smith AN, Karet FE. Stover EH, et al. Among authors: rungroj n. J Med Genet. 2002 Nov;39(11):796-803. doi: 10.1136/jmg.39.11.796. J Med Genet. 2002. PMID: 12414817 Free PMC article.
Evidence suggesting a genetic contribution to kidney stone in northeastern Thai population.
Sritippayawan S, Borvornpadungkitti S, Paemanee A, Predanon C, Susaengrat W, Chuawattana D, Sawasdee N, Nakjang S, Pongtepaditep S, Nettuwakul C, Rungroj N, Vasuvattakul S, Malasit P, Yenchitsomanus PT. Sritippayawan S, et al. Among authors: rungroj n. Urol Res. 2009 Jun;37(3):141-6. doi: 10.1007/s00240-009-0189-1. Epub 2009 Apr 22. Urol Res. 2009. PMID: 19387627
Simple, efficient, and cost-effective multiplex genotyping with matrix assisted laser desorption/ionization time-of-flight mass spectrometry of hemoglobin beta gene mutations.
Thongnoppakhun W, Jiemsup S, Yongkiettrakul S, Kanjanakorn C, Limwongse C, Wilairat P, Vanasant A, Rungroj N, Yenchitsomanus PT. Thongnoppakhun W, et al. Among authors: rungroj n. J Mol Diagn. 2009 Jul;11(4):334-46. doi: 10.2353/jmoldx.2009.080151. Epub 2009 May 21. J Mol Diagn. 2009. PMID: 19460936 Free PMC article.
23 results