8 results for author:"Walker A.P." in Literature citations
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| Hepatic iron concentration, fibrosis and response to venesection associated with the A77D and V162del "loss of function" mutations in ferroportin disease. Lim F.L., Dooley J.S., Roques A.W., Grellier L., Dhillon A.P., Walker A.P. Blood Cells Mol. Dis. 40:328-333(2008) · Mapped (7) |
| Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3). Devalia V., Carter K., Walker A.P., Perkins S.J., Worwood M., May A., Dooley J.S. |
| Mutations and phenotype in isolated glycerol kinase deficiency. Walker A.P., Muscatelli F., Stafford A.N., Chelly J., Dahl N., Blomquist H.K., Delanghe J., Willems P.J., Steinmann B., Monaco A.P. Am. J. Hum. Genet. 58:1205-1211(1996) · UniProtKB (1) |
| WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. Derry J.M.J., Kerns J.A., Weinberg K.I., Ochs H.D., Volpini V., Estivill X., Walker A.P., Francke U. Hum. Mol. Genet. 4:1127-1135(1995) · UniProtKB (1) |
| Isolation of the human Xp21 glycerol kinase gene by positional cloning. Walker A.P., Muscatelli F., Monaco A.P. Hum. Mol. Genet. 2:107-114(1993) · UniProtKB (1) |
| Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Muscatelli F., Strom T.M., Walker A.P., Zanaria E., Recan D., Meindl A., Bardoni B., Guioli S., Zehetner G., Rabl W. et al. Nature 372:672-676(1994) · UniProtKB (1) |
| An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Zanaria E., Muscatelli F., Bardoni B., Strom T.M., Guioli S., Guo W., Lalli E., Moser C., Walker A.P., McCabe E.R.B. et al. Nature 372:635-641(1994) · UniProtKB (1) |
| Isolation and characterization of a MAGE gene family in the Xp21.3 region. Muscatelli F., Walker A.P., De Plaen E., Stafford A.N., Monaco A.P. Proc. Natl. Acad. Sci. U.S.A. 92:4987-4991(1995) · UniProtKB (1) |