Genetic identification and molecular modeling characterization reveal a novel PROM1 mutation in Stargardt4-like macular dystrophy

Stargardt disease-4 (STGD4) is an autosomal dominant complex, genetically heterogeneous macular degeneration/dystrophy (MD) disorder. In this paper, we used targeted next generation sequencing and multiple molecular dynamics analyses to identify and characterize a disease-causing genetic variant in...

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Detalles Bibliográficos
Autores principales: Imani, Saber, Cheng, Jingliang, Shasaltaneh, Marzieh Dehghan, Wei, Chunli, Yang, Lisha, Fu, Shangyi, Zou, Hui, Khan, Md. Asaduzzaman, Zhang, Xianqin, Chen, Hanchun, Zhang, Dianzheng, Duan, Chengxia, Lv, Hongbin, Li, Yumei, Chen, Rui, Fu, Junjiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2017
Materias:
Research Paper: Chromosome
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5787432/
https://www.ncbi.nlm.nih.gov/pubmed/29416601
http://dx.doi.org/10.18632/oncotarget.22343

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