A Novel Mutation Confirms MFRP as the Gene Causing the Syndrome of Nanophthalmos–Renititis Pigmentosa–Foveoschisis–Optic Disk Drusen
Crespí, Jaume, Buil, José A, Bassaganyas, Francisca, Vela-Segarra, José I, Díaz-Cascajosa, Jesús, Ayala-Ramírez, Raul, Zenteno, Juan C
Published in American journal of ophthalmology (01.08.2008)
Published in American journal of ophthalmology (01.08.2008)
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Journal Article
Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity
Zenteno, Juan C., Crespí, Jaume, Buentello-Volante, Beatriz, Buil, Jose A., Bassaganyas, Francisca, Vela-Segarra, Jose I., Diaz-Cascajosa, Jesus, Marieges, Maria T.
Published in Graefe's archive for clinical and experimental ophthalmology (01.11.2014)
Published in Graefe's archive for clinical and experimental ophthalmology (01.11.2014)
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Journal Article
Erratum to: Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity
Zenteno, Juan C., Crespí, Jaume, Buentello-Volante, Beatriz, Buil, Jose A., Bassaganyas, Francisca, Vela-Segarra, Jose I., Diaz-Cascajosa, Jesus, Marieges, Maria T.
Published in Graefe's archive for clinical and experimental ophthalmology (01.08.2015)
Published in Graefe's archive for clinical and experimental ophthalmology (01.08.2015)
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Journal Article
A Novel Mutation ConfirmsMFRPas the Gene Causing the Syndrome of Nanophthalmos-Renititis Pigmentosa-Foveoschisis-Optic Disk Drusen
Crespí, Jaume, Buil, José A, Bassaganyas, Francisca, Vela-Segarra, José I, Díaz-Cascajosa, Jesús, Ayala-Ramírez, Raul, Zenteno, Juan C
Published in American journal of ophthalmology (01.08.2008)
Published in American journal of ophthalmology (01.08.2008)
Get full text
Journal Article