title: Genome sequencing identifies a non-coding variant in the MCDR1 locus as a cause of macular dystrophy.
authors.affiliation: Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.|Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.
authors.forename: Jamie M
authors.initials: JM
authors.lastname: Ellingford
authors.affiliation: Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.|Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.|Manchester Royal Eye Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
authors.forename: Panagiotis I
authors.initials: PI
authors.lastname: Sergouniotis
authors.affiliation: Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
authors.forename: Emma
authors.initials: E
authors.lastname: Jenkins
authors.affiliation: Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.|Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.
authors.forename: Graeme C
authors.initials: GC
authors.lastname: Black
mesh_terms: D000328:Adult; D002874:Chromosome Mapping; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D014644:Genetic Variation; D015894:Genome, Human / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D022661:RNA, Untranslated / Q000235:genetics*; D017422:Sequence Analysis, DNA; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology
chemical_list: D005136:Eye Proteins; C402686:MCDR1 protein, human; D022661:RNA, Untranslated