OR11-002 - Mutations in MVK cause non-syndromic RP

por Siemiatkowska, AM, Stoffels, M, Neveling, K, Simon, A, van Hagen, PM, den Hollander, AI, Cremers, FP, van den Born, LI, Collin, RW
Publicado 2013

Genotype‐phenotype correlations of low‐frequency variants in the complement system in renal disease and age‐related macular degeneration

por Geerlings, M.J., Volokhina, E.B., de Jong, E.K., van de Kar, N., Pauper, M., Hoyng, C.B., van den Heuvel, L.P., den Hollander, A.I.
Publicado 2018

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa

por Azam, Maleeha, Khan, Muhammad Imran, Gal, Andreas, Hussain, Alamdar, Shah, Syed Tahir Abbas, Khan, Muhammad Shakil, Sadeque, Ahmed, Bokhari, Habib, Collin, Rob W.J., Orth, Ulrike, van Genderen, Maria M., den Hollander, A.I., Cremers, Frans P. M., Qamar, Raheel
Publicado 2009