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9. IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia. Dietrich P; Alli S; Shanmugasundaram R; Dragatsis I Hum Mol Genet; 2012 Dec; 21(23):5078-90. PubMed ID: 22922231 [TBL] [Abstract][Full Text] [Related]
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13. A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect. Hims MM; Shetty RS; Pickel J; Mull J; Leyne M; Liu L; Gusella JF; Slaugenhaupt SA Genomics; 2007 Sep; 90(3):389-96. PubMed ID: 17644305 [TBL] [Abstract][Full Text] [Related]
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19. Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews. Dong J; Edelmann L; Bajwa AM; Kornreich R; Desnick RJ Am J Med Genet; 2002 Jul; 110(3):253-7. PubMed ID: 12116234 [TBL] [Abstract][Full Text] [Related]
20. Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system. Harripaul R; Morini E; Salani M; Logan E; Kirchner E; Bolduc J; Chekuri A; Currall B; Yadav R; Erdin S; Talkowski ME; Gao D; Slaugenhaupt S bioRxiv; 2023 Oct; ():. PubMed ID: 37808686 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]