Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease

por Riveiro-Alvarez, R., Valverde, D., Lorda-Sanchez, I., Trujillo-Tiebas, M. J., Cantalapiedra, D., Vallespin, E., Aguirre-Lamban, J., Ramos, C., Ayuso, C.
Publicado 2007

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

por 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
Publicado 2009

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

por 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
Publicado 2009