Possible protective role of the ABCA4 gene c.1268A > G missense variant in Stargardt disease and syndromic retinitis pigmentosa in a Sicilian family: Preliminary data.

In conclusion, even though the c.1268A>G missense variant of the ABCA4 gene has often been reported as causative of disease, and in other cases protective of disease, in our family case, the variant appears to reduce or delay the risk of onset of Stargardt disease.
PMID: 28290600 [PubMed - as supplied by publisher]

Source: International Journal of Molecular Medicine - March 9, 2017 Category: Molecular Biology Authors: D'Angelo R, Donato L, Venza I, Scimone C, Aragona P, Sidoti A Tags: Int J Mol Med Source Type: research