TY  - JOUR
AU  - González-Del Pozo, María
AU  - Martín-Sánchez, Marta
AU  - Bravo-Gil, Nereida
AU  - Méndez-Vidal, Cristina
AU  - Chimenea, Ángel
AU  - Rodríguez-de la Rúa, Enrique
AU  - Borrego, Salud
AU  - Antiñolo, Guillermo
PY  - 2018
DO  - 10.1038/s41598-018-31511-5
UR  - http://hdl.handle.net/10668/12917
T2  - Scientific reports
AB  - Inherited Retinal Dystrophies are clinically and genetically heterogeneous disorders affecting the photoreceptors. Although NGS has shown to be helpful for the molecular diagnosis of these conditions, some cases remain unsolved. Among these, several...
LA  - en
KW  - ATP-Binding Cassette Transporters
KW  - Adolescent
KW  - Adult
KW  - Antigens, Neoplasm
KW  - Base Sequence
KW  - Cell Cycle Proteins
KW  - Child
KW  - Child, Preschool
KW  - Cytoskeletal Proteins
KW  - DNA Mutational Analysis
KW  - Extracellular Matrix Proteins
KW  - Female
KW  - Genetic Diseases, Inborn
KW  - Humans
KW  - Infant
KW  - Male
KW  - Middle Aged
KW  - Neoplasm Proteins
KW  - Retinal Dystrophies
KW  - Sequence Deletion
TI  - Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing.
TY  - research article
VL  - 8
ER  -