Clinical characterisation of a family with retinal dystrophy caused by mutation in the Mertk gene

British Journal of Ophthalmology

Volumn 90, Issue 6, 2006, Pages 718-723

  Tschernutter, M ^a   Jenkins, S A ^b   Waseem, N H ^a   Saihan, Z ^a,b   Holder, G E ^b   Bird, A C ^b   Bhattacharya, S S ^a   Ali, R R ^a   Webster, Andrew R ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL EXAMINATION; CLINICAL FEATURE; CONTROLLED STUDY; DNA POLYMORPHISM; DNA SEQUENCE; ELECTROPHYSIOLOGY; EYE FUNDUS; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE MUTATION; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MERTK GENE; NIGHT VISION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHOTOPIC VISION; PRIORITY JOURNAL; RETINA DYSTROPHY; VISUAL ACUITY;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; FRAMESHIFT MUTATION; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PERIMETRY; PHENOTYPE; POLYMERASE CHAIN REACTION; PROTO-ONCOGENE PROTEINS; RECEPTOR PROTEIN-TYROSINE KINASES; RETINAL DEGENERATION; VISUAL ACUITY; VISUAL FIELDS;

EID: 33744780159     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.2005.084897     Document Type: Article

References (13)

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