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Published in Blood (09.07.2015)
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Published in Blood (08.06.2023)
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The Genetic and Phenotypic Diversity of Dyskeratosis Congenita
Vulliamy, Thomas J., Marrone, Anna, Walne, Amanda, Stevens, David, Mason, Philip J., Dokal, Inderjeet S.
Published in Blood (16.11.2004)
Published in Blood (16.11.2004)
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The glucose-6-phosphate dehydrogenase (G6PD) deficient variant G6PD Union (454 Arg-->Cys) has a worldwide distribution possibly due to recurrent mutation
Rovira, A, Vulliamy, T J, Pujades, A, Luzzatto, L, Corrons, J L
Published in Human molecular genetics (01.05.1994)
Published in Human molecular genetics (01.05.1994)
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G6PD Aures: a new mutation (48 Ile-->Thr) causing mild G6PD deficiency is associated with favism
Nafa, K, Reghis, A, Osmani, N, Baghli, L, Benabadji, M, Kaplan, J C, Vulliamy, T J, Luzzatto, L
Published in Human molecular genetics (01.01.1993)
Published in Human molecular genetics (01.01.1993)
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