Open AccessImpact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies
Author(s) -
Marta Del PozoValero,
Rosa Riveiro-Álvarez,
Inmaculada Martín-Mérida,
Fiona BlancoKelly,
Saoud Tahsin Swafiri,
Isabel LordaSánchez,
María José Trujillo-Tiebas,
Ester Carreño,
Belén Jiménez-Rolando,
Blanca Garcı́a-Sandoval,
Marta Cortón,
Almudena ÁvilaFernández,
Carmen Ayuso
Publication year - 2022
Publication title -
investigative ophthalmology and visual science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.935
H-Index - 218
eISSN - 1552-5783
pISSN - 0146-0404
DOI - 10.1167/iovs.63.2.11
Subject(s) - abca4 , stargardt disease , genetics , sanger sequencing , macular dystrophy , biology , gene , genotyping , retinitis pigmentosa , locus (genetics) , genetic testing , dna sequencing , genetic heterogeneity , medicine , bioinformatics , genotype , phenotype