Open AccessMolecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome
Author(s) -
Leonardo Colombo,
Paolo Enrico Maltese,
Marco Castori,
Saïd El Shamieh,
Christina Zeitz,
Isabelle Audo,
Alessandra Zulian,
Carlo Marinelli,
Sabrina Benedetti,
Alisia Costantini,
Simone Bressan,
Marcella Percio,
Paolo Ferri,
Andi Abeshi,
Matteo Bertelli,
Luca Rossetti
Publication year - 2021
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.62.2.13
Subject(s) - retinitis pigmentosa , proband , sanger sequencing , genetics , medicine , exome sequencing , multiplex ligation dependent probe amplification , abca4 , genetic epidemiology , biology , dna sequencing , phenotype , mutation , gene , exon