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Acta Ophthalmologica|February 21, 2018
ATP-binding cassette subfamily A, member 4 intronic variants c.4773+3A>G and c.5461-10T>C cause Stargardt disease due to defective splicingFrida Jonsson, Ida Maria Westin, Lennart Österman, et al.
European Journal of Human Genetics : EJHG|March 23, 2007
Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish familiesLinda Köhn, Konstantin Kadzhaev, Marie S I Burstedt, et al.
Investigative Ophthalmology & Visual Science|March 18, 2008
Carrier of R14W in carbonic anhydrase IV presents Bothnia dystrophy phenotype caused by two allelic mutations in RLBP1Linda Köhn, Marie S I Burstedt, Frida Jonsson, et al.
Ophthalmic Genetics|July 2, 2010
PITPNM3 is an uncommon cause of cone and cone-rod dystrophiesLinda Köhn, Susanne Kohl, Sara J Bowne, et al.
European Journal of Human Genetics : EJHG|December 4, 2008
Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetranceLinda Köhn, Sara J Bowne, Lori S Sullivan, et al.
Human Mutation|February 14, 2015
Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED)Frida Jonsson, Berit Byström, Alice E Davidson, et al.
The Journal of Biological Chemistry|January 22, 2003
Disease-causing mutations in the cellular retinaldehyde binding protein tighten and abolish ligand interactionsIrina Golovleva, Sanjoy Bhattacharya, Zhiping Wu, et al.
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