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Paper Details

Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
Hum Mol Genet
29
2016
Asp594fs, Gln117, Hereditary retinal degenerations, Ile756Phe, Met712fs, TTLL5, TTLL5 variants, autozygome, centrosome, cone photoreceptor dystrophy, cone-dominated retinopathy, cone-rod degeneration, genetic diseases, homozygous variants, human, humans, infertility, isoforms, mouse, patients, photoreceptor cells, polyglutamylase, polyglutamylase gene, polyglutamylase gene TTLL5, polyglutamylase-encoding gene, polyglutamylase-encoding gene TTLL5, rat, reduced male fertility, sperm, spermatozoa, spermatozoon, truncating TTLL5 variants
Author NameAffiliation
Hoai Viet TranJules Gonin Eye Hospital
Martin McKibbinSt. James's University Hospital
Jamie M EllingfordSt. Mary's Hospital, University of Manchester
Graeme C M BlackSt. Mary's Hospital, University of Manchester
Carel B HoyngRadboud University Medical Center
Caroline C W KlaverRadboud University Medical Center
Caroline C W KlaverErasmus Medical Center
Carlo RivoltaUniversity of Lausanne
Carlo RivoltaUniversity of Lausanne
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