Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy

F.I. Arrigoni; M. Matarin; P.J. Thompson; M. Michaelides; M.E. Mcclements; E. Redmond; L. Clarke; E. Ellins; S. Mohamed; I. Pavord; David Hunt; A.T. Moore; J. Halcox; S.M. Sisodiya

doi:10.1038/ejhg.2010.147

Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy

F.I. Arrigoni, M. Matarin, P.J. Thompson, M. Michaelides, M.E. Mcclements, E. Redmond, L. Clarke, E. Ellins, S. Mohamed, I. Pavord, David Hunt, A.T. Moore, J. Halcox, S.M. Sisodiya

Research output: Contribution to journal › Article › peer-review

21 Citations (Scopus)

Original language	English
Pages (from-to)	131–137
Journal	European Journal of Human Genetics
Volume	19
DOIs	https://doi.org/10.1038/ejhg.2010.147
Publication status	Published - 2011

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10.1038/ejhg.2010.147

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Arrigoni, F. I., Matarin, M., Thompson, P. J., Michaelides, M., Mcclements, M. E., Redmond, E., Clarke, L., Ellins, E., Mohamed, S., Pavord, I., Hunt, D., Moore, A. T., Halcox, J., & Sisodiya, S. M. (2011). Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy. European Journal of Human Genetics, 19, 131–137. https://doi.org/10.1038/ejhg.2010.147

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title = "Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy",

author = "F.I. Arrigoni and M. Matarin and P.J. Thompson and M. Michaelides and M.E. Mcclements and E. Redmond and L. Clarke and E. Ellins and S. Mohamed and I. Pavord and David Hunt and A.T. Moore and J. Halcox and S.M. Sisodiya",

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Arrigoni, FI, Matarin, M, Thompson, PJ, Michaelides, M, Mcclements, ME, Redmond, E, Clarke, L, Ellins, E, Mohamed, S, Pavord, I, Hunt, D, Moore, AT, Halcox, J & Sisodiya, SM 2011, 'Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy', European Journal of Human Genetics, vol. 19, pp. 131–137. https://doi.org/10.1038/ejhg.2010.147

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AU - Arrigoni, F.I.

AU - Matarin, M.

AU - Thompson, P.J.

AU - Michaelides, M.

AU - Mcclements, M.E.

AU - Redmond, E.

AU - Clarke, L.

AU - Ellins, E.

AU - Mohamed, S.

AU - Pavord, I.

AU - Hunt, David

AU - Moore, A.T.

AU - Halcox, J.

AU - Sisodiya, S.M.

PY - 2011

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U2 - 10.1038/ejhg.2010.147

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JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

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