Author:
Gonzàlez-Duarte Roser,de Castro-Miró Marta,Tuson Miquel,Ramírez-Castañeda Valeria,Gils Rebeca Valero,Marfany Gemma
Publisher
Springer International Publishing
Reference21 articles.
1. Chen Y, Zhao L, Wang Y et al (2017) SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data. BMC Bioinf 18:147
2. Daiger SP, Bowne SJ, Sullivan LS et al (2018) Molecular findings in families with an initial diagnose of autosomal dominant retinitis pigmentosa (adRP). Springer, Cham, pp 237–245
3. de Castro-Miró M, Tonda R, Escudero-Ferruz P et al (2016) Novel candidate genes and a wide spectrum of structural and point mutations responsible for inherited retinal dystrophies revealed by exome sequencing. PLoS One 11:1–19
4. de Castro-Miró M, Tonda R, Marfany G et al (2018) Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families. Br J Ophthalmol 102:1378–1386.
https://doi.org/10.1136/bjophthalmol-2017-311427
5. den Hollander AI, Koenekoop RK, Yzer S et al (2006) Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet 79:556–561
Cited by
8 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献