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Sp alpha V/41: a common spectrin polymorphism at the alpha IV-alpha V domain junction. Relevance to the expression level of hereditary elliptocytosis due to alpha-spectrin variants located in trans.
Alloisio N, Morlé L, Maréchal J, Roux AF, Ducluzeau MT, Guetarni D, Pothier B, Baklouti F, Ghanem A, Kastally R, Delaunay J, et al. Alloisio N, et al. Among authors: kastally r. J Clin Invest. 1991 Jun;87(6):2169-77. doi: 10.1172/JCI115250. J Clin Invest. 1991. PMID: 2040699 Free PMC article.
Compound heterozygosity of novel missense mutations in the gamma-glutamyl-carboxylase gene causes hereditary combined vitamin K-dependent coagulation factor deficiency.
Darghouth D, Hallgren KW, Shtofman RL, Mrad A, Gharbi Y, Maherzi A, Kastally R, LeRicousse S, Berkner KL, Rosa JP. Darghouth D, et al. Among authors: kastally r. Blood. 2006 Sep 15;108(6):1925-31. doi: 10.1182/blood-2005-12-010660. Epub 2006 May 23. Blood. 2006. PMID: 16720838 Free PMC article.
31 results