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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.
Sep 16, 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.
Aug 27, 2020
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy
Johannes Birtel , Tobias Eisenberger , Martin Gliem , Philipp L. Müller , Philipp Herrmann , Christian Betz , Diana Zahnleiter ,...
Mar 19, 2018
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