Skip to Main Content

Paper Details

Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in <i>ABCA4</i>.
Genes (Basel)
10
2019
25G, 3:c.25G>A, A, ABCA4, BBS2, CNGA1, CNGA3, CNGB3, Gly72Arg, MKKS, NMNAT1, NM_000350, NM_022787.3:, PDE6B, RPE65, Retinal Diseases, TULP1, Val9Met, autozygous intervals, c., c.214G, candidate gene, genes, hereditary retinal diseases, inherited retinal diseases, p.Gly72Arg, p.Val9Met, retinal disorders, single-nucleotide polymorphism
Author NameAffiliation
Mathieu QuinodozUniversity of Leicester
Mathieu QuinodozUniversity of Lausanne
Carlo RivoltaUniversity of Leicester
Carlo RivoltaClinical Research Center, Institute of Molecular and Clinical Ophthalmology Basel (IOB)
Carlo RivoltaUniversity Hospital Basel
Carlo RivoltaUniversity of Leicester
Carlo RivoltaClinical Research Center, Institute of Molecular and Clinical Ophthalmology Basel (IOB)
Carlo RivoltaUniversity Hospital Basel
  • 1 - 8

Datasets

Release 1.2