Molecular Basis and Enzymatic Properties of Glucose 6-Phosphate Dehydrogenase Volendam, Leading to Chronic Nonspherocytic Anemia, Granulocyte Dysfunction, and Increased Susceptibility to Infections
Roos, Dirk, van Zwieten, Rob, Wijnen, Juul T., Gómez-Gallego, Felix, de Boer, Martin, Stevens, David, Pronk-Admiraal, Claudia J., de Rijk, Thea, van Noorden, Cornelis J.F., Weening, Ron S., Vulliamy, Tom J., Ploem, J. Eduard, Mason, Philip J., Bautista, José M., Khan, P. Meera, Beutler, Ernest
Published in Blood (01.11.1999)
Published in Blood (01.11.1999)
Get full text
Journal Article
Dyskeratosis Congenita Caused by a 3′ Deletion: Germline and Somatic Mosaicism in a Female Carrier
Vulliamy, T.J., Knight, S.W., Heiss, N.S., Smith, O.P., Poustka, A., Dokal, I., Mason, P.J.
Published in Blood (15.08.1999)
Published in Blood (15.08.1999)
Get full text
Journal Article
Glucose 6-phosphate dehydrogenase mutations causing enzyme deficiency in a model of the tertiary structure of the human enzyme
NAYLOR, C. E, ROWLAND, P, BASAK, A. K, GOVER, S, MASON, P. J, BAUTISTA, J. M, VULLIAMY, T. J, LUZZATTO, L, ADAMS, M. J
Published in Blood (01.04.1996)
Published in Blood (01.04.1996)
Get full text
Journal Article
G6PD Haplotypes Spanning Xq28 from F8C to Red/Green Color Vision
Filosa, S., Calabrò, V., Lania, G., Vulliamy, T.J., Brancati, C., Tagarelli, A., Luzzatto, L., Martini, G.
Published in Genomics (San Diego, Calif.) (01.07.1993)
Published in Genomics (San Diego, Calif.) (01.07.1993)
Get full text
Journal Article
Multinational Study on the Clinical and Genetic Features of the ERCC6L2-Disease
Hakkarainen, Marja, Douglas, Suvi P.M., Vulliamy, Tom, Dokal, Inderjeet, Soulier, Jean, Larcher, Lise, Niinimäki, Riitta, Siitonen, Timo, Hellstrom Lindberg, Eva, Barbany, Gisela, Tesi, Bianca, Kuperman, Amir Asher, Tamary, Hannah, Jackson, Sharon, Kilpivaara, Outi, Wartiovaara-Kautto, Ulla
Published in BLOOD (23.11.2021)
Published in BLOOD (23.11.2021)
Get full text
Journal Article
Conference Proceeding
G6PD canton a common deficient variant in South East Asia caused by a 459 arg→leu mutation
STEVENS, D. J, WANACHIWANAWIN, W, MASON, P. J, VULLIAMY, T. J, LUZZATTO, L
Published in Nucleic acids research (11.12.1990)
Published in Nucleic acids research (11.12.1990)
Get full text
Journal Article
Structural analysis of the X‐linked gene encoding human glucose 6‐phosphate dehydrogenase
Martini, G., Toniolo, D., Vulliamy, T., Luzzatto, L., Dono, R., Viglietto, G., Paonessa, G., D'Urso, M., Persico, M.G.
Published in The EMBO journal (01.08.1986)
Published in The EMBO journal (01.08.1986)
Get full text
Journal Article
Severe hemolytic anemia associated with the homozygous state for an unstable hemoglobin variant (Hb Bushwick)
SRIVASTAVA, P, KAEDA, J. S, ROPER, D, VULLIAMY, T. J, BUCKLEY, M, LUZZATTO, L
Published in Blood (01.09.1995)
Published in Blood (01.09.1995)
Get full text
Journal Article
New Glucose-6-Phosphate Dehydrogenase Mutations Associated With Chronic Anemia
Mason, P.J., Sonati, M.F., MacDonald, D., Lanza, C., Busutil, D., Town, M., Corcoran, CM, Kaeda, J.S., Stevens, D.J., Al-lsmail, S., Altay, C., Hatton, C., Lewis, D.S., McMullin, M.F., Meloni, T., Paul, B., Pippard, M., Prentice, A.G., Vulliamy, T.J., Luzzatto, L.
Published in Blood (01.03.1995)
Published in Blood (01.03.1995)
Get full text
Journal Article