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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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Autori principali: Maia-Lopes, Susana, Aguirre-Lamban, Jana, Castelo-Branco, Miguel, Riveiro-Alvarez, Rosa, Ayuso, Carmen, Silva, Eduardo Duarte
Natura: Artigo
Lingua:Inglês
Pubblicazione: Molecular Vision 2009
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2660377/
https://ncbi.nlm.nih.gov/pubmed/19365591
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