Personalized diagnosis and management of congenital cataract by next-generation sequencing

Ophthalmology

Volumn 121, Issue 11, 2014, Pages 2124-2137.e2

  Gillespie, Rachel L ^a   O'Sullivan, James ^a   Ashworth, Jane ^a   Bhaskar, Sanjeev ^b   Williams, Simon ^b   Biswas, Susmito ^a   Kehdi, Elias ^a   Ramsden, Simon C ^a,b   Clayton Smith, Jill ^a,b   Black, Graeme C ^a,b   Lloyd, I Christopher ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b MANCHESTER UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CONGENITAL CATARACT; DNA SEQUENCE; EVALUATION STUDY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENOMICS; HUMAN; MALE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; OUTCOME ASSESSMENT; PERSONALIZED MEDICINE; PHENOTYPE; PROTEIN FUNCTION; TERATOLOGY; ADOLESCENT; CATARACT; CHILD; EXON; GENETIC ASSOCIATION; GENETIC SCREENING; GENETICS; HIGH THROUGHPUT SEQUENCING; INFANT; INTRON; MUTATION; PEDIGREE; PRESCHOOL CHILD; VALIDATION STUDY;

DNA; EYE PROTEIN;

ADOLESCENT; CATARACT; CHILD; CHILD, PRESCHOOL; DNA; DNA MUTATIONAL ANALYSIS; EXONS; EYE PROTEINS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC TESTING; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; INTRONS; MALE; MUTATION; PEDIGREE; PRECISION MEDICINE;

EID: 84908470973     PISSN: 01616420     EISSN: 15494713     Source Type: Journal    
DOI: 10.1016/j.ophtha.2014.06.006     Document Type: Article

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