Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants

BACKGROUND/AIMS: Mutations in ABCA4 have been associated with autosomal recessive Stargardt disease (STGD), a few cases with autosomal recessive cone–rod dystrophy (arCRD) and autosomal recessive retinitis pigmentosa (arRP). The purpose of the study was threefold: to molecularly characterise familie...

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Detalhes bibliográficos
Main Authors: Aguirre-Lamban, J, Riveiro-Alvarez, R, Maia-Lopes, S, Cantalapiedra, D, Vallespin, E, Avila-Fernandez, A, Villaverde-Montero, C, Trujillo-Tiebas, M J, Ramos, C, Ayuso, C
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2009
Assuntos:
Clinical Science
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2668911/
https://ncbi.nlm.nih.gov/pubmed/19028736
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjo.2008.145193
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