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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: puy h. Hum Mutat. 2011 Jun;32(6):590-7. doi: 10.1002/humu.21455. Epub 2011 Feb 24. Hum Mutat. 2011. PMID: 21309041
[Hepatic porphyrias and drugs].
Deybach JC, Puy H, Nordmann Y. Deybach JC, et al. Among authors: puy h. Gastroenterol Clin Biol. 1994;18(4):348-53. Gastroenterol Clin Biol. 1994. PMID: 7958651 Review. French. No abstract available.
Review: molecular pathogenesis of hepatic acute porphyrias.
Grandchamp B, Puy H, Lamoril J, Deybach JC, Nordmann Y. Grandchamp B, et al. Among authors: puy h. J Gastroenterol Hepatol. 1996 Nov;11(11):1046-52. doi: 10.1111/j.1440-1746.1996.tb00035.x. J Gastroenterol Hepatol. 1996. PMID: 8985829 Review.
187 results