Miguel de Sousa Dias Christian P Hamel Isabelle Meunier Juliette Varin Steven Blanchard Fiona Boyard José-Alain Sahel Christina Zeitz
Mol Vis
2017 Mar 18;23:131-139.
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/28356705/
Carrier Proteins / genetics Consanguinity Mutation / genetics RNA Splice Sites / genetics Retinal Dystrophies / genetics
Carrier Proteins / genetics Consanguinity Mutation / genetics RNA Splice Sites / genetics Retinal Dystrophies / genetics Case Reports Child Chromosome Segregation / genetics Family Female Homozygote Humans Male Pedigree Phenotype Carrier Proteins RNA Splice Sites TTLL5 protein, human
PMC5360453
28356705
Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family
2017