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