Novel mutation in SLC4A7 gene causing autosomal recessive progressive rod-cone dystrophy

The genetic landscape of the human solute carrier (SLC) transporter superfamily

(2019) Lena Schaller et al.   HUMAN GENETICS

Next-generation sequencing and its application in diagnosis of retinitis pigmentosa

(2019) Arash Salmaninejad et al.   OPHTHALMIC GENETICS

Non-syndromic retinitis pigmentosa

(2018) Sanne K. Verbakel et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Diagnostic exome sequencing in 266 Dutch patients with visual impairment

(2017) Lonneke Haer-Wigman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A challenge to the striking genotypic heterogeneity of retinitis pigmentosa: a better understanding of the pathophysiology using the newest genetic strategies

(2016) F S Sorrentino et al.   EYE

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

(2012) L. Abu-Safieh et al.   GENOME RESEARCH

The solute carrier (SLC) complement of the human genome: Phylogenetic classification reveals four major families

(2008) Robert Fredriksson et al.   FEBS LETTERS