Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease

AIM: To determine the carrier frequency of ABCA4 mutations in order to achieve an insight into the prevalence of autosomal recessive Stargardt disease (arSTGD) in the Spanish population. METHODS: arSTGD patients (n = 133) were analysed using ABCR400 microarray and sequencing. Control subjects were a...

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Detalles Bibliográficos
Autores principales: Riveiro-Alvarez, R, Aguirre-Lamban, J, Lopez-Martinez, M Angel, Trujillo-Tiebas, M Jose, Cantalapiedra, D, Vallespin, E, Avila-Fernandez, A, Ramos, C, Ayuso, C
Formato: Texto
Lenguaje:English
Publicado: BMJ Group 2009
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2743849/
https://www.ncbi.nlm.nih.gov/pubmed/18977788
http://dx.doi.org/10.1136/bjo.2008.148155

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2743849/
https://www.ncbi.nlm.nih.gov/pubmed/18977788
http://dx.doi.org/10.1136/bjo.2008.148155

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