Human Genome Epidemiology Literature Finder
Records 1 - 3 (of 3 Records) |
Query Trace: Iron Overload and ALAS2[original query] |
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Hemochromatosis and severe iron overload associated with compound heterozygosity for TFR2 R455Q and two novel mutations TFR2 R396X and G792R. Acta haematologica 2006 1 115 (1-2): 102-5. Lee Pauline L, Barton James |
Sideroblastic anemia: functional study of two novel missense mutations in ALAS2. Molecular genetics & genomic medicine 2016 May 4 (3): 273-82. Méndez Manuel, Moreno-Carralero María-Isabel, Morado-Arias Marta, Fernández-Jiménez María-Cristina, de la Iglesia Iñigo Silvia, Morán-Jiménez María-Jo |
Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort. British journal of haematology 2019 7 187 (4): 530-542. Fouquet Cyrielle, Le Rouzic Marie-Amelyne, Leblanc Thierry, Fouyssac Fanny, Leverger Guy, Hessissen Laila, Marlin Sandrine, Bourrat Emmanuelle, Fahd Mony, Raffoux Emmanuel, Vannier Jean-Pierre, Jäkel Nadja, Knoefler Ralf, Triolo Valerie, Pasquet Marlene, Bayart Sophie, Thuret Isabelle, Lutz Patrick, Vermylen Christiane, Touati Mohamed, Rose Christian, Matthes Thomas, Isidor Bertrand, Kannengiesser Caroline, Ducassou Stepha |
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