G6PD mahidol, a common deficient variant in South East Asia is caused by a (163)glycine----serine mutation.

Por Vulliamy, T J, Wanachiwanawin, W, Mason, P J, Luzzatto, L
Publicado em 1989

Targeted resequencing of 52 bone marrow failure genes in patients with aplastic anemia reveals an increased frequency of novel variants of unknown significance only in SLX4

Por Collopy, Laura C., Walne, Amanda J., Vulliamy, Tom J., Dokal, Inderjeet S.
Publicado em 2014

G6PD Canton a common deficient variant in South East Asia caused by a 459 Arg----Leu mutation.

Por Stevens, D J, Wanachiwanawin, W, Mason, P J, Vulliamy, T J, Luzzatto, L
Publicado em 1990

Polymorphic sites in the African population detected by sequence analysis of the glucose-6-phosphate dehydrogenase gene outline the evolution of the variants A and A-.

Por Vulliamy, T J, Othman, A, Town, M, Nathwani, A, Falusi, A G, Mason, P J, Luzzatto, L
Publicado em 1991

Multiple glucose 6-phosphate dehydrogenase-deficient variants correlate with malaria endemicity in the Vanuatu archipelago (southwestern Pacific).

Por Ganczakowski, M, Town, M, Bowden, D K, Vulliamy, T J, Kaneko, A, Clegg, J B, Weatherall, D J, Luzzatto, L
Publicado em 1995

Differences in Disease Severity but Similar Telomere Lengths in Genetic Subgroups of Patients with Telomerase and Shelterin Mutations

Por Vulliamy, Tom J., Kirwan, Michael J., Beswick, Richard, Hossain, Upal, Baqai, Charlotte, Ratcliffe, Anna, Marsh, Judith, Walne, Amanda, Dokal, Inderjeet
Publicado em 2011

Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia.

Por Vulliamy, T J, D'Urso, M, Battistuzzi, G, Estrada, M, Foulkes, N S, Martini, G, Calabro, V, Poggi, V, Giordano, R, Town, M
Publicado em 1988

An extensive search for RFLP in the human glucose-6-phosphate dehydrogenase locus has revealed a silent mutation in the coding sequence.

Por D'Urso, M, Luzzatto, L, Perroni, L, Ciccodicola, A, Gentile, G, Peluso, I, Persico, M G, Pizzella, T, Toniolo, D, Vulliamy, T J
Publicado em 1988

X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

Por Knight, S W, Heiss, N S, Vulliamy, T J, Greschner, S, Stavrides, G, Pai, G S, Lestringant, G, Varma, N, Mason, P J, Dokal, I, Poustka, A
Publicado em 1999

1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis.

Por Knight, S W, Vulliamy, T J, Heiss, N S, Matthijs, G, Devriendt, K, Connor, J M, D'Urso, M, Poustka, A, Mason, P J, Dokal, I
Publicado em 1998

A New Glucose-6-Phosphate Dehydrogenase Variant, G6PD Orissa (44 Ala→Gly), is the Major Polymorphic Variant in Tribal Populations in India

Por Kaeda, J. S., Chhotray, G. P., Ranjit, M. R., Bautista, J. M., Reddy, P. H., Stevens, D., Naidu, J. M., Britt, R. P., Vulliamy, T. J., Luzzatto, L., Mason, P. J.
Publicado em 1995

Triallelic and epigenetic-like inheritance in human disorders of telomerase

Por Collopy, Laura C., Walne, Amanda J., Cardoso, Shirleny, de la Fuente, Josu, Mohamed, Mahfuzah, Toriello, Helga, Tamary, Hannah, Ling, Adam J. Y. V., Lloyd, Timothy, Kassam, Rebecca, Tummala, Hemanth, Vulliamy, Thomas J., Dokal, Inderjeet
Publicado no Blood (2015)