Exome Sequencing Extends the Phenotypic Spectrum for ABHD12 Mutations

Nishiguchi, Koji M.; Avila-Fernandez, Almudena; van Huet, Ramon A.C.; Corton, Marta; Pérez-Carro, Raquel; Martín-Garrido, Esther; López-Molina, María Isabel; Blanco-Kelly, Fiona; Hoefsloot, Lies H.; van Zelst-Stams, Wendy A.; García-Ruiz, Pedro J.; del Val, Javier; Di Gioia, Silvio Alessandro; Klevering, B. Jeroen; van de Warrenburg, Bart P.C.; Vazquez, Carlos; Cremers, Frans P.M.; García-Sandoval, Blanca; Hoyng, Carel B.; Collin, Rob W.J.; Rivolta, Carlo; Ayuso, Carmen

期刊名称Ophthalmology
作者Nishiguchi, Koji M.; Avila-Fernandez, Almudena; van Huet, Ramon A.C.; Corton, Marta; Pérez-Carro, Raquel; Martín-Garrido, Esther; López-Molina, María Isabel; Blanco-Kelly, Fiona; Hoefsloot, Lies H.; van Zelst-Stams, Wendy A.; García-Ruiz, Pedro J.; del Val, Javier; Di Gioia, Silvio Alessandro; Klevering, B. Jeroen; van de Warrenburg, Bart P.C.; Vazquez, Carlos; Cremers, Frans P.M.; García-Sandoval, Blanca; Hoyng, Carel B.; Collin, Rob W.J.; Rivolta, Carlo; Ayuso, Carmen
卷第121卷
期第8期
印刷ISSN0161-6420
文件大小1503.52KB
发表时间2014-08
DOI10.1016/j.ophtha.2014.02.008
页码1620-1627

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Exome Sequencing Extends the Phenotypic Spectrum for ABHD12 Mutations