Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes

Abstract Our purpose was to elucidate the genotype and ophthalmological and audiological phenotype in TUBB4B-associated inherited retinal dystrophy (IRD) and sensorineural hearing loss (SNHL), and to model the effects of all possible amino acid substitutions at the hotspot codons Arg390 and Arg391....

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Hlavní autoři:	Jan-Philipp Bodenbender, Valerio Marino, Julia Philipp, Anke Tropitzsch, Christoph Kernstock, Katarina Stingl, Melanie Kempf, Tobias B. Haack, Theresia Zuleger, Pascale Mazzola, Susanne Kohl, Nicole Weisschuh, Daniele Dell’Orco, Laura Kühlewein
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Nature Portfolio 2024-05-01
Edice:	Scientific Reports
Témata:	TUBB4B Hereditary retinal dystrophy Leber congenital amaurosis Retinitis pigmentosa Hearing loss Structural analysis
On-line přístup:	https://doi.org/10.1038/s41598-024-61019-0
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