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UnknownMutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.
Not available
S-EPMC1287897 | biostudies-literature
UnknownIdentification of major binding proteins and substrates for the SH2-containing protein tyrosine phosphatase SHP-1 in macrophages.
Not available
S-EPMC108968 | biostudies-literature
UnknownHigh-addition segmented refractive bifocal intraocular lens in inactive age-related macular degeneration: A multicenter pilot study.
Not available
S-EPMC8412355 | biostudies-literature
UnknownMutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.
Not available
S-EPMC1559533 | biostudies-literature
UnknownNovel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.
Not available
S-EPMC4043607 | biostudies-literature
UnknownMutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.
Not available
S-EPMC3710761 | biostudies-literature
UnknownHomozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.
Not available
S-EPMC3061516 | biostudies-literature
UnknownNext-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.
Not available
S-EPMC5606877 | biostudies-literature
UnknownLeber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene.
Not available
S-EPMC1226034 | biostudies-literature
UnknownPathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects.
Not available
S-EPMC8263458 | biostudies-literature
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