TY  - JOUR
AU  - Perea-Romero, Irene
AU  - Gordo, Gema
AU  - Iancu, Ionut F
AU  - Del-Pozo-Valero, Marta
AU  - Almoguera, Berta
AU  - Blanco-Kelly, Fiona
AU  - Carreño, Ester
AU  - Jimenez-Rolando, Belen
AU  - Lopez-Rodriguez, Rosario
AU  - Lorda-Sanchez, Isabel
AU  - Martin-Merida, Inmaculada
AU  - Pérez de Ayala, Lucia
AU  - Riveiro-Alvarez, Rosa
AU  - Rodriguez-Pinilla, Elvira
AU  - Tahsin-Swafiri, Saoud
AU  - Trujillo-Tiebas, Maria J
AU  - Garcia-Sandoval, Blanca
AU  - Minguez, Pablo
AU  - Avila-Fernandez, Almudena
AU  - Corton, Marta
AU  - Ayuso, Carmen
PY  - 2021
DO  - 10.1038/s41598-021-81093-y
UR  - https://hdl.handle.net/10668/27631
T2  - Scientific reports
AB  - Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address the genetic landscape of IRD...
LA  - en
PB  - Nature Publishing Group
KW  - ATP-Binding Cassette Transporters
KW  - Extracellular Matrix Proteins
KW  - Eye Proteins
KW  - Genetic Testing
KW  - Prevalence
KW  - Spain
KW  - Adult
KW  - Aged
KW  - Cohort Studies
KW  - Cross-Sectional Studies
KW  - DNA
KW  - Female
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Mutation
KW  - Myosin VIIa
KW  - Pedigree
KW  - Peripherins
KW  - Retinal Dystrophies
KW  - Retinitis Pigmentosa
KW  - Retrospective Studies
TI  - Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
TY  - research article
VL  - 11
ER  -