A detailed phenotypic assessment of individuals affected by mfrp-related oculopathy

Molecular Vision

Volumn 16, Issue , 2010, Pages 540-548

  Mukhopadhyay, Rajarshi ^a,b   Sergouniotis, Panagiotis I ^a,b   Mackay, Donna S ^a   Day, Alexander C ^b   Wright, Genevieve ^b   Devery, Sophie ^b   Leroy, Bart P ^c   Robson, Anthony G ^a,b   Holder, Graham E ^a,b   Li, Zheng ^a   Webster, Andrew R ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

^c GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; MEMBRANE TYPE FRIZZLED RELATED PROTEIN; UNCLASSIFIED DRUG; MFRP PROTEIN, HUMAN;

ADULT; ARTICLE; AUTOFLUORESCENCE IMAGING; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CONSANGUINEOUS MARRIAGE; DISEASE SEVERITY; ELECTROPHYSIOLOGY; EXON; EYE DISEASE; EYE EXAMINATION; FEMALE; GENE DELETION; GENE INSERTION; GENE SEQUENCE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INTRON; MALE; NUCLEIC ACID BASE SUBSTITUTION; OPHTHALMOSCOPY; OPTIC DISK ANOMALY; OPTICAL COHERENCE TOMOGRAPHY; PHENOTYPE; PRIORITY JOURNAL; RETINA CONE; RETINA FOVEA; RETINA MACULA LUTEA; RETINA ROD; SLIT LAMP; TONOMETER; VISUAL ACUITY; CHEMISTRY; ELECTRORETINOGRAPHY; EYE FUNDUS; FLUORESCENCE; GENETICS; MIDDLE AGED; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PEDIGREE;

ADULT; BASE SEQUENCE; ELECTROPHYSIOLOGICAL PHENOMENA; ELECTRORETINOGRAPHY; EYE DISEASES; FEMALE; FLUORESCENCE; FUNDUS OCULI; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; TOMOGRAPHY, OPTICAL COHERENCE;

EID: 77952303022     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

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