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Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin.
Tein I, Elpeleg O, Ben-Zeev B, Korman SH, Lossos A, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Vockley J, Berry GT, Lamhonwah AM, Matern D, Roe CR, Gregersen N. Tein I, et al. Among authors: elpeleg o. Mol Genet Metab. 2008 Feb;93(2):179-89. doi: 10.1016/j.ymgme.2007.09.021. Epub 2007 Dec 3. Mol Genet Metab. 2008. PMID: 18054510
REMOVED: Short-chain acyl-CoA dehydrogenase gene mutation (319 C>T) presents with clinical heterogeneity and is candidate founder mutation in Ashkenazi Jewish population.
Tein I, Elpeleg O, Ben-Zeev B, Korman SH, Lossos A, Lev D, Lerman-Sagie T, Vockley G, Berry GT, Lamhownah AM, Matern D, Roe CR, Gregersen N. Tein I, et al. Among authors: elpeleg o. Mol Genet Metab. 2007 Jan 17. doi: 10.1016/j.ymgme.2006.11.011. Online ahead of print. Mol Genet Metab. 2007. PMID: 17234443
Hypocarnitinemia in lysinuric protein intolerance.
Korman SH, Raas-Rothschild A, Elpeleg O, Gutman A. Korman SH, et al. Among authors: elpeleg o. Mol Genet Metab. 2002 May;76(1):81-3. doi: 10.1016/s1096-7192(02)00019-7. Mol Genet Metab. 2002. PMID: 12175786
Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.
Kaufmann R, Straussberg R, Mandel H, Fattal-Valevski A, Ben-Zeev B, Naamati A, Shaag A, Zenvirt S, Konen O, Mimouni-Bloch A, Dobyns WB, Edvardson S, Pines O, Elpeleg O. Kaufmann R, et al. Among authors: elpeleg o. Am J Hum Genet. 2010 Nov 12;87(5):667-70. doi: 10.1016/j.ajhg.2010.09.016. Epub 2010 Oct 14. Am J Hum Genet. 2010. PMID: 20950787 Free PMC article.
Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer.
Nielsen KB, Sørensen S, Cartegni L, Corydon TJ, Doktor TK, Schroeder LD, Reinert LS, Elpeleg O, Krainer AR, Gregersen N, Kjems J, Andresen BS. Nielsen KB, et al. Among authors: elpeleg o. Am J Hum Genet. 2007 Mar;80(3):416-32. doi: 10.1086/511992. Epub 2007 Jan 18. Am J Hum Genet. 2007. PMID: 17273963 Free PMC article.
309 results