Litcius/Paper detail

RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients

Rosario López‐Rodríguez, Esther Lantero, Fiona Blanco‐Kelly, Almudena Ávila‐Fernández, Inmaculada Martin Merida, Marta Del Pozo‐Valero, Irene Perea‐Romero, Olga Zurita, Belén Jimenez‐Rolando, Saoud Tahsin Swafiri, Rosa Riveiro-Álvarez, María José Trujillo-Tiebas, Ester Carreño, Blanca Garcı́a-Sandoval, Marta Cortón, Carmen Ayuso

2021Experimental Eye Research31 citationsDOI

Topics & Concepts

Missense mutationRPE65GenotypeAlleleCohortDiseaseMedicineGeneticsInternal medicineBiologyPhenotypeGeneGenetic enhancementRetinal Development and DisordersMuscle Physiology and DisordersGenetic and Kidney Cyst Diseases