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British Journal of Ophthalmology, ISSN 0007-1161, 04/2016, Volume 100, Issue 4, pp. 495 - 500
BackgroundThe GNAT1 gene encodes the α subunit of the rod transducin protein, a key element in the rod phototransduction cascade. Variants in GNAT1 have been... 
Genetics | Retina | Degeneration | CGMP-PHOSPHODIESTERASE | NOUGARET FORM | DATABASE | TRANSDUCIN ALPHA-SUBUNIT | ROD TRANSDUCIN | RECESSIVE RETINITIS-PIGMENTOSA | OPHTHALMOLOGY | UPDATE | GENOME | STATIONARY NIGHT BLINDNESS | Humans | Middle Aged | Molecular Sequence Data | Eye Diseases, Hereditary - diagnosis | Male | Heterotrimeric GTP-Binding Proteins - genetics | Base Sequence | Myopia - diagnosis | Aged, 80 and over | Adult | Female | Genetic Diseases, X-Linked - genetics | Eye Proteins - genetics | Night Blindness - genetics | Retinitis Pigmentosa - physiopathology | Genetic Diseases, X-Linked - physiopathology | Siblings | Electroretinography | Amino Acid Sequence | Eye Diseases, Hereditary - physiopathology | Tomography, Optical Coherence | Night Blindness - diagnosis | Retina - physiopathology | Retinitis Pigmentosa - genetics | Codon, Nonsense | Genetic Diseases, X-Linked - diagnosis | Eye Diseases, Hereditary - genetics | Retinitis Pigmentosa - diagnosis | Myopia - genetics | DNA - isolation & purification | Myopia - physiopathology | Night Blindness - physiopathology | Aged | High-Throughput Nucleotide Sequencing | Genetically modified mice | Retinal degeneration | Care and treatment | Research | Gene mutations | Risk factors | Proteins | Diabetic retinopathy | Genes | Tomography | Photoreceptors | Mutation | Patients | Age | Deoxyribonucleic acid--DNA | Clinical Science | 1506
Journal Article
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 04/2016, Volume 100, Issue 4, pp. 501 - 504
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 08/2017, Volume 26, Issue 1, pp. R2 - R11
While individually classed as rare diseases, hereditary retinal degenerations (IRDs) are the major cause of registered visual handicap in the developed world.... 
DIAGNOSIS | THERAPY | DYSTROPHY | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISEASE | GENES | GENETICS & HEREDITY | MUTATIONS | NGS | IDENTIFICATION | RETINITIS-PIGMENTOSA | REVEALS | Exons | Pedigree | Retinal Degeneration - genetics | Humans | Conserved Sequence | Retinitis Pigmentosa - genetics | Eye Proteins - genetics | Mutation | Retinal Dystrophies - genetics | Sequence Analysis, DNA | Invited Reviews
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 04/2016, Volume 100, Issue 4, pp. 495 - 500
Journal Article
Journal Article
Cancer Research, ISSN 0008-5472, 10/2014, Volume 74, Issue 20 Supplement, pp. B5 - B5
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 2015, Volume 56, Issue 9, pp. 5424 - 5430
Journal Article
by Pearse, Rupert M and Clavien, Pierre-Alain and Demartines, Nicolas and Fleisher, Lee A and Grocott, Mike and Haddow, James and Holt, Peter and Moreno, Rui and Pritchard, Naomi and Rhodes, Andrew and Wilson, Matt and Ferguson, Marissa and Macmahon, Michael and Shulman, Mark and Cherian, Ritchie and Currow, Helen and Kanathiban, Kathirgamanathan and Gillespie, David and Pathmanathan, Edward and Phillips, Katherine and Reynolds, Jenifer and Rowley, Joanne and Douglas, Jeanene and Kerridge, Ross and Garg, Sameer and Bennett, Michael and Jain, Megha and Alcock, David and Terblanche, Nico and Cotter, Rochelle and Leslie, Kate and Stewart, Marcelle and Zingerle, Nicolette and Clyde, Antony and Hambidge, Oliver and Rehak, Adam and Cotterell, Sharon and Huynh, Wilson Binh Quan and McCulloch, Timothy and Ben-Menachem, Erez and Egan, Thomas and Cope, Jennifer and Halliwell, Richard and Fellinger, Paul and Haisjackl, Markus and Haselberger, Simone and Holaubek, Caroline and Lichtenegger, Paul and Scherz, Florian and Schmid, Werner and Hoffer, Franz and Cakova, Veronika and Eichwalder, Andreas and Fischbach, Norbert and Klug, Reinhold and Schneider, Elisabeth and Vesely, Martin and Wickenhauser, Reinhart and Grubmueller, Karl Gernot and Leitgeb, Marion and Lang, Friedrich and Toro, Nancy and Bauer, Marlene and Laengle, Friedrich and Haberl, Claudia and Mayrhofer, Thomas and Trybus, Christoph and Buerkle, Christian and Forstner, Karin and Germann, Reinhard and Rinoesl, Harald and Schindler, Elke and Trampitsch, Ernst and Bogner, Gerhard and Dankl, Daniel and Duenser, Martin and Fritsch, Gerhard and Gradwohl-Matis, Ilse and Hartmann, Andreas and Hoelzenbein, Thomas and Jaeger, Tarkan and Landauer, Franz and Lindl, Gregor and Lux, Michael and Steindl, Johannes and Stundner, Ottokar and Szabo, Christian and Bidgoli, Jawad and Verdoodt, Hans and Forget, Patrice and Kahn, David and Lois, Fernande and Momeni, Mona and Prégardien, Caroline and Pospiech, Audrey and Steyaert, Arnaud and Veevaete, Laurent and De Kegel, Dirk and De Jongh, Karen and Foubert, Luc and ... and International Surgical Outcomes Study group and Int Surg Outcomes Study Grp and Region Östergötland and Sinnescentrum and Anestesi- och intensivvårdskliniken US
British Journal of Anaesthesia, ISSN 0007-0912, 11/2016, Volume 117, Issue 5, pp. 601 - 609
Journal Article