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A variant in XPNPEP2 is associated with angioedema induced by angiotensin I-converting enzyme inhibitors.
Duan QL, Nikpoor B, Dube MP, Molinaro G, Meijer IA, Dion P, Rochefort D, Saint-Onge J, Flury L, Brown NJ, Gainer JV, Rouleau JL, Agostoni A, Cugno M, Simon P, Clavel P, Potier J, Wehbe B, Benarbia S, Marc-Aurele J, Chanard J, Foroud T, Adam A, Rouleau GA. Duan QL, et al. Among authors: rouleau ga, rouleau jl. Am J Hum Genet. 2005 Oct;77(4):617-26. doi: 10.1086/496899. Epub 2005 Sep 1. Am J Hum Genet. 2005. PMID: 16175507 Free PMC article.
A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q.
Hand CK, Khoris J, Salachas F, Gros-Louis F, Lopes AA, Mayeux-Portas V, Brewer CG, Brown RH Jr, Meininger V, Camu W, Rouleau GA. Hand CK, et al. Among authors: rouleau ga. Am J Hum Genet. 2002 Jan;70(1):251-6. doi: 10.1086/337945. Epub 2001 Nov 9. Am J Hum Genet. 2002. PMID: 11706389 Free PMC article.
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
Howard HC, Mount DB, Rochefort D, Byun N, Dupré N, Lu J, Fan X, Song L, Rivière JB, Prévost C, Horst J, Simonati A, Lemcke B, Welch R, England R, Zhan FQ, Mercado A, Siesser WB, George AL Jr, McDonald MP, Bouchard JP, Mathieu J, Delpire E, Rouleau GA. Howard HC, et al. Among authors: rouleau ga. Nat Genet. 2002 Nov;32(3):384-92. doi: 10.1038/ng1002. Epub 2002 Oct 7. Nat Genet. 2002. PMID: 12368912
805 results