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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2009
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Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2743849/
https://ncbi.nlm.nih.gov/pubmed/18977788
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjo.2008.148155
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