Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder von Falkenberg, Kim D., Braverman, Nancy E., Moser, Ann B., Steinberg, Steven J., Klouwer, Femke C.C., Schlüter, Agatha, Ruiz, Montserrat, Pujol, Aurora, Engvall, Martin, Naess, Karin, van Spronsen, FrancJan, Körver-Keularts, Irene, Rubio-Gozalbo, M. Estela, Ferdinandusse, Sacha, Wanders, Ronald J.A., Waterham, Hans R.

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Heimler Syndrome is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6 von Ratbi, I, Falkenberg, KD, Sommen, M, Al-Sheqaih, N, Guaoua, S, Vandeweyer, G, Urquhart, JE, Chandler, KE, Williams, SJ, Roberts, NA, El Alloussi, M, Black, GC, Ferdinandusse, S, Ramdi, H, Heimler, A, Fryer, A, Lynch, S, Cooper, N, Ong, KR, Smith, CEL, Inglehearn, CF, Mighell, AJ, Elcock, C, Poulter, JA, Tischkowitz, M, Davies, SJ, Sefiani, A, Mironov, AA, Newman, WG, Waterham, HR, Van Camp, G

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