Hollander, Anneke I. Den, Heckenlively, John R., Van den Born, L. Ingeborgh, De Kok, Yvette J. M., Van der Velde-Visser, Saskia D., Kellner, Ulrich, ...
Mutations in the crumbs homologue 1 (CRB1) gene cause a specific form of retinitis pigmentosa (RP) that is designated “RP12” and is characterized by a preserved para-arteriolar retinal pigment...
Mutations in the ABCA4 (ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy
Maugeri, Alessandra, Klevering, B. Jeroen, Rohrschneider, Klaus, Blankenagel, Anita, Brunner, Han G., Deutman, August F., ...
The photoreceptor cell–specific ATP-binding cassette transporter gene (ABCA4; previously denoted “ABCR”) is mutated in most patients with autosomal recessive (AR) Stargardt disease (STGD1) or...
Hollander, Anneke I. Den, Heckenlively, John R., Van den Born, L. Ingeborgh, De Kok, Yvette J. M., Van der Velde-Visser, Saskia D., Kellner, Ulrich, ...
Mutations in the crumbs homologue 1 (CRB1) gene cause a specific form of retinitis pigmentosa (RP) that is designated “RP12” and is characterized by a preserved para-arteriolar retinal pigment...
Mutations in the ABCA4 (ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy
Maugeri, Alessandra, Klevering, B. Jeroen, Rohrschneider, Klaus, Blankenagel, Anita, Brunner, Han G., Deutman, August F., ...
The photoreceptor cell–specific ATP-binding cassette transporter gene (ABCA4; previously denoted “ABCR”) is mutated in most patients with autosomal recessive (AR) Stargardt disease (STGD1) or...
Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis
Den Hollander, Anneke I., Koenekoop, Robert K., Yzer, Suzanne, Lopez, Irma, Arends, Maarten L., Voesenek, Krysta E. J., ...
Leber congenital amaurosis (LCA) is one of the main causes of childhood blindness. To date, mutations in eight genes have been described, which together account for ∼45% of LCA cases. We localized...