Molecular findings from 537 individuals with inherited retinal disease

BACKGROUND: Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous set of disorders, for which diagnostic second-generation sequencing (next-generation sequencing, NGS) services have been developed worldwide. METHODS: We present the molecular findings of 537 individuals ref...

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Dades bibliogràfiques
Publicat a:J Med Genet
Autors principals: Ellingford, Jamie M, Barton, Stephanie, Bhaskar, Sanjeev, O'Sullivan, James, Williams, Simon G, Lamb, Janine A, Panda, Binay, Sergouniotis, Panagiotis I, Gillespie, Rachel L, Daiger, Stephen P, Hall, Georgina, Gale, Theodora, Lloyd, I Christopher, Bishop, Paul N, Ramsden, Simon C, Black, Graeme C M
Format: Artigo
Idioma:Inglês
Publicat: BMJ Publishing Group 2016
Matèries:
Genotype-Phenotype Correlations
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5106339/
https://ncbi.nlm.nih.gov/pubmed/27208204
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2016-103837
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