Mutation in the gene KCNV2, encoding a voltage-gated potassium channel subunit cause "cone dystrophy with a supernormal rod electroretinogram" in humans

H. Wu; J.A. Cowing; M. Michaelides; S.E. Wilkie; G. Jeffery; S.A. Jenkins; V. Mester; A.C. Bird; A.G. Robson; G.E. Holder; A.T. Moore; David Hunt; A.R. Webster

doi:10.1086/507568

Mutation in the gene KCNV2, encoding a voltage-gated potassium channel subunit cause "cone dystrophy with a supernormal rod electroretinogram" in humans

H. Wu, J.A. Cowing, M. Michaelides, S.E. Wilkie, G. Jeffery, S.A. Jenkins, V. Mester, A.C. Bird, A.G. Robson, G.E. Holder, A.T. Moore, David Hunt, A.R. Webster

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

111 Citations (Scopus)

Original language	English
Pages (from-to)	574-579
Journal	American Journal of Human Genetics
Volume	79
DOIs	https://doi.org/10.1086/507568
Publication status	Published - 2006

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10.1086/507568

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Wu, H., Cowing, J. A., Michaelides, M., Wilkie, S. E., Jeffery, G., Jenkins, S. A., Mester, V., Bird, A. C., Robson, A. G., Holder, G. E., Moore, A. T., Hunt, D., & Webster, A. R. (2006). Mutation in the gene KCNV2, encoding a voltage-gated potassium channel subunit cause "cone dystrophy with a supernormal rod electroretinogram" in humans. American Journal of Human Genetics, 79, 574-579. https://doi.org/10.1086/507568

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author = "H. Wu and J.A. Cowing and M. Michaelides and S.E. Wilkie and G. Jeffery and S.A. Jenkins and V. Mester and A.C. Bird and A.G. Robson and G.E. Holder and A.T. Moore and David Hunt and A.R. Webster",

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Wu, H, Cowing, JA, Michaelides, M, Wilkie, SE, Jeffery, G, Jenkins, SA, Mester, V, Bird, AC, Robson, AG, Holder, GE, Moore, AT, Hunt, D & Webster, AR 2006, 'Mutation in the gene KCNV2, encoding a voltage-gated potassium channel subunit cause "cone dystrophy with a supernormal rod electroretinogram" in humans', American Journal of Human Genetics, vol. 79, pp. 574-579. https://doi.org/10.1086/507568

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T1 - Mutation in the gene KCNV2, encoding a voltage-gated potassium channel subunit cause "cone dystrophy with a supernormal rod electroretinogram" in humans

AU - Wu, H.

AU - Cowing, J.A.

AU - Michaelides, M.

AU - Wilkie, S.E.

AU - Jeffery, G.

AU - Jenkins, S.A.

AU - Mester, V.

AU - Bird, A.C.

AU - Robson, A.G.

AU - Holder, G.E.

AU - Moore, A.T.

AU - Hunt, David

AU - Webster, A.R.

PY - 2006

Y1 - 2006

U2 - 10.1086/507568

DO - 10.1086/507568

M3 - Article

C2 - 16909397

SN - 0002-9297

VL - 79

SP - 574

EP - 579

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

ER -