Abnormal retinal development associated with FRMD7 mutations

Human Molecular Genetics

Volumn 23, Issue 15, 2014, Pages 4086-4093

  Thomas, Mervyn G ^a   Crosier, Moira ^b   Lindsay, Susan ^b   Kumar, Anil ^a   Araki, Masasuke ^c   Leroy, Bart P ^d   McLean, Rebecca J ^a   Sheth, Viral ^a   Maconachie, Gail ^a   Thomas, Shery ^a,e   Moore, Anthony T ^f   Gottlob, Irene ^a  

^a UNIVERSITY OF LEICESTER   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c NARA WOMEN'S UNIVERSITY   (Japan)

^d GHENT UNIVERSITY HOSPITAL   (Belgium)

^e NOTTINGHAM UNIVERSITY HOSPITALS NHS TRUST   (United Kingdom)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CENTRAL MACULAR THICKNESS; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; FRMD7 GENE; GENE; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN TISSUE; IDIOPATHIC INFANTILE NYSTAGMUS; IN SITU HYBRIDIZATION; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; NYSTAGMUS; OPTIC DISK; OPTIC NERVE; OPTICAL COHERENCE TOMOGRAPHY; PHOTORECEPTOR OUTER SEGMENT; PRIORITY JOURNAL; RETINA DEVELOPMENT; RETINA FOVEA; RETINA NEUROEPITHELIAL LAYER; RETINAL NERVE FIBER LAYER THICKNESS; SEQUENCE ANALYSIS; STAINING; STOP CODON; VISUAL ACUITY; ANIMAL EMBRYO; CASE CONTROL STUDY; CHILD; CONGENITAL NYSTAGMUS; FETUS; GENE EXPRESSION REGULATION; GENETICS; METABOLISM; MIDDLE AGED; MUTATION; NERVE FIBER; PATHOLOGY; RETINA;

CYTOSKELETON PROTEIN; FRMD7 PROTEIN, HUMAN; MEMBRANE PROTEIN;

ADOLESCENT; ADULT; AGED; CASE-CONTROL STUDIES; CHILD; CYTOSKELETAL PROTEINS; EMBRYO, MAMMALIAN; FEMALE; FETUS; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HUMANS; IN SITU HYBRIDIZATION; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; NERVE FIBERS; NYSTAGMUS, CONGENITAL; OPTIC DISK; RETINA; TOMOGRAPHY, OPTICAL COHERENCE;

EID: 84904017288     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu122     Document Type: Article

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