TY  - JOUR 
AU  - Corton, M.
AU  - Avila-Fernandez, A.
AU  - Vallespín, E.
AU  - López-Molina, M. I.
AU  - Almoguera, B.
AU  - Martín-Garrido, E.
AU  - Tatu, S. D.
AU  - Khan, M. I.
AU  - Blanco-Kelly, F.
AU  - Riveiro-Alvarez, R.
AU  - Brión Martínez, María José
AU  - García-Sandoval, B.
AU  - Cremers, F. P.
AU  - Carracedo Álvarez, Ángel
AU  - Ayuso, C.
PY  - 2014
SN  - 0161-6420
UR  - http://hdl.handle.net/20.500.11940/4546
AB  - OBJECTIVE: We aimed to identify novel genetic defects in the LCA5 gene underlying Leber congenital amaurosis (LCA) in the Spanish population and to describe the associated phenotype. DESIGN: Case series. PARTICIPANTS: A cohort of 217 unrelated Spanish...
LA  - eng
KW  - Adult
KW  - Child
KW  - Chromosomes, Human, Pair 6
KW  - Electroretinography
KW  - Eye Proteins
KW  - Gene Frequency
KW  - Genome-Wide Association Study
KW  - Genotyping Techniques
KW  - Humans
KW  - Leber Congenital Amaurosis
KW  - Microarray Analysis
KW  - Microtubule-Associated Proteins
KW  - Mutation, Missense
KW  - Phenotype
KW  - Polymorphism, Single Nucleotide
KW  - Retinitis Pigmentosa
KW  - Reverse Transcriptase Polymerase Chain Reaction
KW  - Spain
KW  - Visual Acuity
KW  - Visual Fields
KW  - Young Adult
TI  - Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population
DO  - 10.1016/j.ophtha.2013.08.028
T2  - OPHTHALMOLOGY
M2  - 399
VL  - 121
ER  -