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A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia.
Arnaud L, Saison C, Helias V, Lucien N, Steschenko D, Giarratana MC, Prehu C, Foliguet B, Montout L, de Brevern AG, Francina A, Ripoche P, Fenneteau O, Da Costa L, Peyrard T, Coghlan G, Illum N, Birgens H, Tamary H, Iolascon A, Delaunay J, Tchernia G, Cartron JP. Arnaud L, et al. Among authors: helias v. Am J Hum Genet. 2010 Nov 12;87(5):721-7. doi: 10.1016/j.ajhg.2010.10.010. Epub 2010 Nov 4. Am J Hum Genet. 2010. PMID: 21055716 Free PMC article.
Disruption of SMIM1 causes the Vel- blood type.
Ballif BA, Helias V, Peyrard T, Menanteau C, Saison C, Lucien N, Bourgouin S, Le Gall M, Cartron JP, Arnaud L. Ballif BA, et al. Among authors: helias v. EMBO Mol Med. 2013 May;5(5):751-61. doi: 10.1002/emmm.201302466. Epub 2013 Apr 15. EMBO Mol Med. 2013. PMID: 23505126 Free PMC article.
[A KEL*02mod allele responsible for an apparent maternity exclusion].
Monfort M, Peyrard T, Arnaud L, Helias V, Maggipinto G, Gérard C. Monfort M, et al. Among authors: helias v. Transfus Clin Biol. 2013 Dec;20(5-6):490-5. doi: 10.1016/j.tracli.2013.03.278. Epub 2013 May 30. Transfus Clin Biol. 2013. PMID: 23727116 French.
27 results