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Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 gene.
Aguirre-Lamban J, Riveiro-Alvarez R, Garcia-Hoyos M, Cantalapiedra D, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ramos C, Ayuso C. Aguirre-Lamban J, et al. Among authors: cantalapiedra d. Invest Ophthalmol Vis Sci. 2010 May;51(5):2615-9. doi: 10.1167/iovs.09-4518. Epub 2009 Dec 3. Invest Ophthalmol Vis Sci. 2010. PMID: 19959634
Human gene mutations. Gene symbol: ABCA4. Disease: Stargardt disease.
Lamban JA, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Villaverde C, Avila-Fernandez A, Lopez-Martinez MA, Trujillo-Tiebas MJ, Ayuso C. Lamban JA, et al. Among authors: cantalapiedra d. Hum Genet. 2007 Sep;122(2):211. Hum Genet. 2007. PMID: 18386363 No abstract available.
Gene symbol: ABCA4. Disease: Macular dystrophy.
Aguirre-Lambán J, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ayuso C. Aguirre-Lambán J, et al. Among authors: cantalapiedra d. Hum Genet. 2008 Oct;124(3):314. Hum Genet. 2008. PMID: 18846660 No abstract available.
Gene symbol: ABCA4. Disease: Macular dystrophy.
Aguirre-Lamban J, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ayuso C. Aguirre-Lamban J, et al. Among authors: cantalapiedra d. Hum Genet. 2008 Oct;124(3):319. Hum Genet. 2008. PMID: 18846675 No abstract available.
Gene symbol: ABCA4. Disease: Macular dystrophy.
Aguirre-Lamban J, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ayuso C. Aguirre-Lamban J, et al. Among authors: cantalapiedra d. Hum Genet. 2008 Oct;124(3):321. Hum Genet. 2008. PMID: 18846678 No abstract available.
Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.
Riveiro-Alvarez R, Aguirre-Lamban J, Lopez-Martinez MA, Trujillo-Tiebas MJ, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Ramos C, Ayuso C. Riveiro-Alvarez R, et al. Among authors: cantalapiedra d. Br J Ophthalmol. 2009 Oct;93(10):1359-64. doi: 10.1136/bjo.2008.148155. Epub 2008 Oct 31. Br J Ophthalmol. 2009. PMID: 18977788 Free PMC article. Review.
Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants.
Aguirre-Lamban J, Riveiro-Alvarez R, Maia-Lopes S, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ramos C, Ayuso C. Aguirre-Lamban J, et al. Among authors: cantalapiedra d. Br J Ophthalmol. 2009 May;93(5):614-21. doi: 10.1136/bjo.2008.145193. Epub 2008 Nov 21. Br J Ophthalmol. 2009. PMID: 19028736 Free PMC article.
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