A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration.
Aged, 80 and over
Amino Acid Sequence
Eye Diseases, Hereditary
Genetic Diseases, X-Linked
Heterotrimeric GTP-Binding Proteins
High-Throughput Nucleotide Sequencing
Molecular Sequence Data
Tomography, Optical Coherence
MetadataShow full item record
CitationA novel homozygous truncating GNAT1 mutation implicated in retinal degeneration. 2016, 100 (4):495-500 Br J Ophthalmol
JournalThe British journal of ophthalmology
AbstractThe GNAT1 gene encodes the α subunit of the rod transducin protein, a key element in the rod phototransduction cascade. Variants in GNAT1 have been implicated in stationary night-blindness in the past, but unlike other proteins in the same pathway, it has not previously been implicated in retinitis pigmentosa.
SponsorsThe authors would like to acknowledge grant awards from Fighting Blindness Ireland, The Health Research Board, The Medical Research Charities Group and Science Foundation Ireland.
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