Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome
下一代测序揭示了临床诊断的 Usher 综合征的突变情况：拷贝数变异、表型复制、翻译通读的主要靶点以及 Heimler 综合征中的 PEX26 突变
期刊:Molecular Genetics & Genomic Medicine
影响因子:1.5
doi:10.1002/mgg3.312
Christine Neuhaus, Tobias Eisenberger, Christian Decker, Sandra Nagl, Cornelia Blank, Markus Pfister, Ingo Kennerknecht, Cornelie Müller-Hofstede, Peter Charbel Issa, Raoul Heller, Bodo Beck, Klaus Rüther, Diana Mitter, Klaus Rohrschneider, Ute Steinhauer, Heike M Korbmacher, Dagmar Huhle, Solaf M E
