<i>RHO</i> Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.

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作者： Giulia,Trastulli ^[1] ; Domenica,Megalizzi ^[2] ; Giulia,Calvino ^[3] ; Sarah,Andreucci ^[4] ; Stefania,Zampatti ^[4] ; Claudia,Strafella ^[4] ; Carlo,Caltagirone ^[5] ; Emiliano,Giardina ^[2] ; Raffaella,Cascella ^[6]

作者单位： Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, 00179 Rome, Italy.;Department of Systems Medicine, Tor Vergata University, 00133 Rome, Italy. ^[1] Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, 00179 Rome, Italy.;Department of Biomedicine and Prevention, Tor Vergata University, 00133 Rome, Italy. ^[2] Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, 00179 Rome, Italy.;Department of Science, Roma Tre University, 00146 Rome, Italy. ^[3] Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, 00179 Rome, Italy. ^[4] Department of Clinical and Behavioral Neurology, IRCCS Fondazione Santa Lucia, 00179 Rome, Italy. ^[5] Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, 00179 Rome, Italy.;Department of Chemical-Toxicological and Pharmacological Evaluation of Drugs, Catholic University Our Lady of Good Counsel, 1010 Tirana, Albania. ^[6]

关键词 NGS sequencing RHO rare disease retinitis pigmentosa