Jana Aguirre-Lamban
Madrid, MD, Spain
Last Updated: 09/26/2026
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Found 17 publications
Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factors.
Journal: Investigative ophthalmology & visual science
Published: February 19, 2011
Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease.
Journal: Human genetics
Published: January 29, 2010
Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease.
Journal: Human genetics
Published: January 29, 2010
Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 gene.
Journal: Investigative ophthalmology & visual science
Published: December 05, 2009
Novel human pathological mutations. Gene symbol: ABCA4. Disease: macular dystrophy.
Journal: Human genetics
Published: August 21, 2009
Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease.
Journal: Human genetics
Published: August 21, 2009
Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants.
Journal: The British journal of ophthalmology
Published: November 26, 2008
Last Updated: 09/26/2026