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Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations.
Ducamp S, Kannengiesser C, Touati M, Garçon L, Guerci-Bresler A, Guichard JF, Vermylen C, Dochir J, Poirel HA, Fouyssac F, Mansuy L, Leroux G, Tertian G, Girot R, Heimpel H, Matthes T, Talbi N, Deybach JC, Beaumont C, Puy H, Grandchamp B. Ducamp S, et al. Among authors: heimpel h. Hum Mutat. 2011 Jun;32(6):590-7. doi: 10.1002/humu.21455. Epub 2011 Feb 24. Hum Mutat. 2011. PMID: 21309041
Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation.
Heimpel H, Schwarz K, Ebnöther M, Goede JS, Heydrich D, Kamp T, Plaumann L, Rath B, Roessler J, Schildknecht O, Schmid M, Wuillemin W, Einsiedler B, Leichtle R, Tamary H, Kohne E. Heimpel H, et al. Blood. 2006 Jan 1;107(1):334-40. doi: 10.1182/blood-2005-01-0421. Epub 2005 Sep 1. Blood. 2006. PMID: 16141353 Free article.
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.
Schwarz K, Iolascon A, Verissimo F, Trede NS, Horsley W, Chen W, Paw BH, Hopfner KP, Holzmann K, Russo R, Esposito MR, Spano D, De Falco L, Heinrich K, Joggerst B, Rojewski MT, Perrotta S, Denecke J, Pannicke U, Delaunay J, Pepperkok R, Heimpel H. Schwarz K, et al. Among authors: heimpel h. Nat Genet. 2009 Aug;41(8):936-40. doi: 10.1038/ng.405. Epub 2009 Jun 28. Nat Genet. 2009. PMID: 19561605 Free article.
Frequency of congenital dyserythropoietic anemias in Europe.
Heimpel H, Matuschek A, Ahmed M, Bader-Meunier B, Colita A, Delaunay J, Garcon L, Gilsanz F, Goede J, Högel J, Kohne E, Leichtle R, Munoz J, Perrotta S, Piscopo C, Renella R, Schwarz K, Smolenska-Sym G, Wickramasinghe S, Zanella A, Iolascon A. Heimpel H, et al. Eur J Haematol. 2010 Jul;85(1):20-5. Eur J Haematol. 2010. PMID: 20665989
431 results