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Specific correction of a splice defect in brain by nutritional supplementation.
Shetty RS, Gallagher CS, Chen YT, Hims MM, Mull J, Leyne M, Pickel J, Kwok D, Slaugenhaupt SA. Shetty RS, et al. Among authors: slaugenhaupt sa. Hum Mol Genet. 2011 Nov 1;20(21):4093-101. doi: 10.1093/hmg/ddr333. Epub 2011 Aug 5. Hum Mol Genet. 2011. PMID: 21821670 Free PMC article.
Familial dysautonomia.
Slaugenhaupt SA, Gusella JF. Slaugenhaupt SA, et al. Curr Opin Genet Dev. 2002 Jun;12(3):307-11. doi: 10.1016/s0959-437x(02)00303-9. Curr Opin Genet Dev. 2002. PMID: 12076674 Review.
Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31.
Chadwick BP, Mull J, Helbling LA, Gill S, Leyne M, Robbins CM, Pinkett HW, Makalowska I, Maayan C, Blumenfeld A, Axelrod FB, Brownstein M, Gusella JF, Slaugenhaupt SA. Chadwick BP, et al. Among authors: slaugenhaupt sa. Genomics. 1999 Jun 15;58(3):302-9. doi: 10.1006/geno.1999.5848. Genomics. 1999. PMID: 10373328
Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.
Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, Liebert CB, Chadwick B, Idelson M, Reznik L, Robbins C, Makalowska I, Brownstein M, Krappmann D, Scheidereit C, Maayan C, Axelrod FB, Gusella JF. Slaugenhaupt SA, et al. Am J Hum Genet. 2001 Mar;68(3):598-605. doi: 10.1086/318810. Epub 2001 Jan 22. Am J Hum Genet. 2001. PMID: 11179008 Free PMC article.
128 results