Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles

AIM: To evaluate the frequency and pattern of disease-associated mutations of ABCA4 gene among Greek patients with presumed Stargardt disease (STGD1). MATERIALS AND METHODS: A total of 59 patients were analyzed for ABCA4 mutations using the ABCR400 microarray and PCR-based sequencing of all coding e...

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Detalles Bibliográficos
Autores principales: Smaragda, Kamakari, Vassiliki, Kokkinou, George, Koutsodontis, Polixeni, Stamatiou, Christoforos, Giatzakis, Anastasios, Anastasakis, Minas, Aslanides Ioannis, Stavrenia, Koukoula, Theoni, Panagiotoglou, Ioannis, Datseris, Miltiadis, Tsilimbaris K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5952432/
https://www.ncbi.nlm.nih.gov/pubmed/29854428
http://dx.doi.org/10.1155/2018/5706142

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