首页> Molecular biology reports> NGS study in a sicilian case series with a genetic diagnosis for Gerstmann-Sträussler-Scheinker syndrome (PRNP, p.P102L).

NGS study in a sicilian case series with a genetic diagnosis for Gerstmann-Sträussler-Scheinker syndrome (PRNP, p.P102L).

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第一作者： Michele,Salemi

第一单位： Oasi Research Institute-IRCCS, Troina, EN, Italy. msalemi@oasi.en.it.

作者： Michele,Salemi ^[1] ; Luana G M,Mandarà ^[2] ; Maria Grazia,Salluzzo ^[3] ; Francesca A,Schillaci ^[3] ; Roberto,Castiglione ^[4] ; Angela,Cordella ^[5] ; Roberta,Iorio ^[5] ; Concetta Simona,Perrotta ^[2] ; Raffaele,Ferri ^[3] ; Corrado,Romano ^[6]

作者单位： Oasi Research Institute-IRCCS, Troina, EN, Italy. msalemi@oasi.en.it. ^[1] U.O.S. Medical Genetics, Maria Paternò Arezzo Hospital, Ragusa, RG, Italy. ^[2] Oasi Research Institute-IRCCS, Troina, EN, Italy. ^[3] Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy. ^[4] Genomix4Life Srl, Baronissi, SA, Italy.;Genome Research Center for Health-CRGS, Baronissi, SA, Italy. ^[5] Oasi Research Institute-IRCCS, Troina, EN, Italy.;Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy. ^[6]

关键词 Gerstmann-Str?ussler-Scheinker syndrome Neurodegenerative diseases Next generation sequencing PRNP gene

医学主题词动物(Animals);人类(Humans);Gerstmann-Straussler-Scheinker病(Gerstmann-Straussler-Scheinker Disease);朊病毒(Prions);突变(Mutation);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing)

DOI 10.1007/s11033-023-08764-z

PMID 37812352

发布时间 2024-02-08

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