title: Clinical heterogeneity in a family with mutations in USH2A.
authors.affiliation: Eye Hospital, University Medical Centre, Ljubljana, Slovenia2Institute of Ophthalmology, University College London, London, England3Moorfields Eye Hospital, London, England.
authors.forename: Eva
authors.initials: E
authors.lastname: Lenassi
authors.affiliation: Institute of Ophthalmology, University College London, London, England3Moorfields Eye Hospital, London, England.
authors.forename: Anthony G
authors.initials: AG
authors.lastname: Robson
authors.affiliation: Ear Institute, University College London, London, England5National Hospital for Neurology and Neurosurgery, London, England.
authors.forename: Linda M
authors.initials: LM
authors.lastname: Luxon
authors.affiliation: Institute of Child Health, University College London, London, England.
authors.forename: Maria
authors.initials: M
authors.lastname: Bitner-Glindzicz
authors.affiliation: Institute of Ophthalmology, University College London, London, England3Moorfields Eye Hospital, London, England.
authors.forename: Andrew R
authors.initials: AR
authors.lastname: Webster
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics*; D004596:Electroretinography; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D018740:Genetic Heterogeneity; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012174:Retinitis Pigmentosa / Q000235:genetics*; D035781:Siblings; D052245:Usher Syndromes / Q000235:genetics*
chemical_list: D016326:Extracellular Matrix Proteins; C112735:USH2A protein, human