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Article

A novel homozygous truncatingGNAT1mutation implicated in retinal degeneration

15 Oct 2015

Abstract excerpt

BACKGROUND: The 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. METHODS: A panel of 182 retinopathy-associated genes was sequenced to locate disease-causing...

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PMID: 26472407
DOI: 10.1136/bjophthalmol-2015-306939

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