title: Exome sequencing reveals ADAM9 mutations in a child with cone-rod dystrophy.
authors.affiliation: Inherited Eye Diseases, UCL Institute of Ophthalmology, London, UK.|Moor-fields Eye Hospital, London, UK.
authors.forename: Sarah
authors.initials: S
authors.lastname: Hull
authors.affiliation: Inherited Eye Diseases, UCL Institute of Ophthalmology, London, UK.|Moor-fields Eye Hospital, London, UK.
authors.forename: Gavin
authors.initials: G
authors.lastname: Arno
authors.affiliation: University College London Genetics Institute, London, UK.
authors.forename: Vincent
authors.initials: V
authors.lastname: Plagnol
authors.affiliation: Inherited Eye Diseases, UCL Institute of Ophthalmology, London, UK.|Moor-fields Eye Hospital, London, UK.
authors.forename: Anthony G
authors.initials: AG
authors.lastname: Robson
authors.affiliation: Inherited Eye Diseases, UCL Institute of Ophthalmology, London, UK.|Moor-fields Eye Hospital, London, UK.
authors.forename: Andrew R
authors.initials: AR
authors.lastname: Webster
authors.affiliation: Inherited Eye Diseases, UCL Institute of Ophthalmology, London, UK.|Moor-fields Eye Hospital, London, UK.
authors.forename: Anthony T
authors.initials: AT
authors.lastname: Moore
mesh_terms: D051722:ADAM Proteins / Q000235:genetics*; D002675:Child, Preschool; D003241:Consanguinity; D004252:DNA Mutational Analysis; D003623:Dark Adaptation; D004596:Electroretinography; D059472:Exome / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D010775:Photic Stimulation; D012174:Retinitis Pigmentosa / Q000235:genetics*; D017422:Sequence Analysis, DNA; D041623:Tomography, Optical Coherence
chemical_list: D008565:Membrane Proteins; D051722:ADAM Proteins; C098339:ADAM9 protein, human