Characterisation of severe rod-cone dystrophy in a consanguineous family with a splice site mutation in the MERTK gene

British Journal of Ophthalmology

Volumn 93, Issue 7, 2009, Pages 920-925

  Issa, P Charbel ^a   Bolz, H J ^b   Ebermann, I ^b   Domeier, E ^a   Holz, F G ^a   Scholl, H P N ^a  

^a UNIVERSITY OF BONN   (Germany)

^b UNIVERSITY OF COLOGNE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DISEASE SEVERITY; ELECTRORETINOGRAM; EYE PHOTOGRAPHY; GENE; GENE MUTATION; HUMAN; MALE; MERTK GENE; OPHTHALMOSCOPY; OPTICAL COHERENCE TOMOGRAPHY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA DYSTROPHY; SCHOOL CHILD; VISUAL ACUITY;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; PROTO-ONCOGENE PROTEINS; RECEPTOR PROTEIN-TYROSINE KINASES; RETINITIS PIGMENTOSA; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL FIELDS; YOUNG ADULT;

EID: 67649644181     PISSN: 00071161     EISSN: 14682079     Source Type: Journal    
DOI: 10.1136/bjo.2008.147397     Document Type: Article

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