ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis

PURPOSE: To resolve the spectrum of causative retina-specific ATP-binding cassette transporter gene (ABCA4) gene mutations in Portuguese Stargardt (STGD) patients and compare allele frequencies obtained in this cohort with those of previous population surveys. METHODS: Using a microarray technique (...

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Detalles Bibliográficos
Autores principales: Maia-Lopes, Susana, Aguirre-Lamban, Jana, Castelo-Branco, Miguel, Riveiro-Alvarez, Rosa, Ayuso, Carmen, Silva, Eduardo Duarte
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2660377/
https://www.ncbi.nlm.nih.gov/pubmed/19365591

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2660377/
https://www.ncbi.nlm.nih.gov/pubmed/19365591

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