González-del Pozo, María Méndez-Vidal, Cristina Bravo-Gil, Nereida Vela-Boza, Alicia Dopazo, Joaquin Borrego, Salud Antiñolo, Guillermo Clinical characteristics of affected family members. <p># Consanguineous family</p>†<p>Previously reported by Maugeri et al. <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0116176#pone.0116176-Maugeri1" target="_blank">[24]</a> in a Stargardt patient in heterozygous state.</p>‡<p>Previously reported by Lewis et al. <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0116176#pone.0116176-Lewis1" target="_blank">[25]</a> in a Stargardt patient in heterozygous state.</p>¥<p>Previously reported by Vervoort et al. <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0116176#pone.0116176-Vervoort1" target="_blank">[23]</a>.</p><p>N.A.: Not available.</p><p>N.R.: Not recordable.</p><p>Clinical characteristics of affected family members.</p> exome sequencing;RPGR mutation;.6088C;diagnosis program;wes;Inherited Retinal Dystrophies;control population;rho;arrp;autosomal recessive RP;macular involvement;Spanish families;filter criteria;Sanger sequencing;ORF 15;.2041C;Recurrent Mutations;carrier sisters;XLRP;Stargardt disease;adrp;Retinitis Pigmentosa;Clinical Significance;inheritance;C 2orf;p.R;C 2orf c .1795T p.Cys 599Arg;NimbleGen SeqCap EZ Exome V 3 sample preparation kit;SOLID 5500 xl platform;ABCA 4 mutations 2014-12-29
    https://plos.figshare.com/articles/dataset/_Clinical_characteristics_of_affected_family_members_/1323816
10.1371/journal.pone.0116176.t001