Simultaneous Expression of ABCA4 and GPR143 Mutations: A Complex Phenotypic Manifestation

PURPOSE: To describe the complex, overlapping phenotype expressed in a two generation family harboring pathogenic mutations in the ABCA4 and GPR143 genes. METHODS: Clinical evaluation of a two generation family included quantitative autofluorescence imaging (qAF, 488-nm excitation) using a modified...

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Detalles Bibliográficos
Autores principales: Lee, Winston, Schuerch, Kaspar, Xie, Yajing, Zernant, Jana, Tsang, Stephen H., Sparrow, Janet R., Allikmets, Rando
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2016
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4961055/
https://www.ncbi.nlm.nih.gov/pubmed/27367509
http://dx.doi.org/10.1167/iovs.16-19621

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4961055/
https://www.ncbi.nlm.nih.gov/pubmed/27367509
http://dx.doi.org/10.1167/iovs.16-19621

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