title: Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract.
authors.affiliation: Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Saint Mary's Hospital, Manchester, UK.
authors.forename: Rachel L
authors.initials: RL
authors.lastname: Gillespie
authors.affiliation: Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Saint Mary's Hospital, Manchester, UK.
authors.forename: Jill
authors.initials: J
authors.lastname: Urquhart
authors.affiliation: Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Saint Mary's Hospital, Manchester, UK.
authors.forename: Beverley
authors.initials: B
authors.lastname: Anderson
authors.affiliation: Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Saint Mary's Hospital, Manchester, UK.
authors.forename: Simon
authors.initials: S
authors.lastname: Williams
authors.affiliation: Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Saint Mary's Hospital, Manchester, UK.
authors.forename: Sarah
authors.initials: S
authors.lastname: Waller
authors.affiliation: Manchester Royal Eye Hospital, Manchester Academic Health Science Centre, The University of Manchester, Central Manchester Foundation Trust, Manchester, UK.
authors.forename: Jane
authors.initials: J
authors.lastname: Ashworth
authors.affiliation: Manchester Royal Eye Hospital, Manchester Academic Health Science Centre, The University of Manchester, Central Manchester Foundation Trust, Manchester, UK.
authors.forename: Susmito
authors.initials: S
authors.lastname: Biswas
authors.affiliation: Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Saint Mary's Hospital, Manchester, UK.
authors.forename: Simon
authors.initials: S
authors.lastname: Jones
authors.affiliation: Northern Ireland Regional Genetics Service (NIRGS), Belfast City Hospital, Belfast, UK.
authors.forename: Fiona
authors.initials: F
authors.lastname: Stewart
authors.affiliation: Manchester Royal Eye Hospital, Manchester Academic Health Science Centre, The University of Manchester, Central Manchester Foundation Trust, Manchester, UK.
authors.forename: I Christopher
authors.initials: IC
authors.lastname: Lloyd
authors.affiliation: Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Saint Mary's Hospital, Manchester, UK; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Saint Mary's Hospital, Manchester, UK.
authors.forename: Jill
authors.initials: J
authors.lastname: Clayton-Smith
authors.affiliation: Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Saint Mary's Hospital, Manchester, UK; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Saint Mary's Hospital, Manchester, UK. Electronic address: graeme.black@manchester.ac.uk.
authors.forename: Graeme C M
authors.initials: GC
authors.lastname: Black
mesh_terms: D002386:Cataract / Q000151:congenital / Q000175:diagnosis / Q000235:genetics; D002648:Child; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D009154:Mutation; D017422:Sequence Analysis, DNA / Q000379:methods*
chemical_list: D005136:Eye Proteins; D004247:DNA