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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

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