Novel Mutations in the KCNV2 Gene in Patients with Cone Dystrophy and a Supernormal Rod Electroretinogram

Author： Thiagalingam Sureka McGee Terri Weleber Richard Sandberg Michael Trzupek Karmen Berson Eliot Dryja Thaddeus

ISSN： 1381-6810

Source： Ophthalmic Genetics, Vol.28, Iss.3, 2007-07, pp. : 135-142

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

Sites of Disease Action in a Retinal Dystrophy with Supernormal and Delayed Rod Electroretinogram b-Waves

By Hood D.C. Cideciyan A.V. Halevy D.A. Jacobson S.G.

Vision Research, Vol. 36, Iss. 6, 1996-03 ,pp. : 889-901

Elsevier

Access to resources Recommend Favorite

Mutation Screening of the GUCA1B Gene in Patients with Autosomal Dominant Cone and Cone Rod Dystrophy

By Kitiratschky Veronique B. D. Glööckner Christian Johannes Kohl Susanne

Ophthalmic Genetics, Vol. 32, Iss. 3, 2011-09 ,pp. : 151-155

Informa Healthcare

Access to resources Recommend Favorite

Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family

By Van Ghelue Marijke Eriksen Hans L. Ponjavic Vesna Fagerheim Toril Andréasson Sten Forsman-Semb Kristina Sandgren Ola Holmgren Gösta Tranebjærg Lisbeth

Ophthalmic Genetics, Vol. 21, Iss. 4, 2000-12 ,pp. : 197-209

Informa Healthcare

Access to resources Recommend Favorite

Association of a Homozygous Nonsense Mutation in the ABCA4 (ABCR) Gene with Cone-Rod Dystrophy Phenotype in an Italian Family

Ophthalmic Research, Vol. 36, Iss. 2, 2004-03 ,pp. : 82-88

Karger

Access to resources Recommend Favorite

Four Novel Mutations in the PITX2 Gene in Patients with Axenfeld-Rieger Syndrome

Ophthalmic Research, Vol. 34, Iss. 5, 2002-10 ,pp. : 324-326

Karger

Access to resources Recommend Favorite