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Sep 16, 2020
Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations
We aimed to characterize the spectrum of FAM161A-associated phenotypes and identify characteristic clinical features.
Aug 26, 2020
Structural bioinformatics predicts that the Retinitis Pigmentosa-28 protein of unknown function FAM161A is a homologue of the microtubule nucleation factor Tpx2
FAM161A is a microtubule-associated protein conserved widely across eukaryotes, which is mutated in the inherited blinding disease RP28.
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