Clinical and biochemical effects of the E139K missense mutation in the TIMP3 gene, associated with Sorsby fundus dystrophy

Molecular Vision

Volumn 15, Issue , 2009, Pages 1218-1230

  Saihan, Zubin ^a,b   Li, Z ^f   Rice, J ^c   Rana, N A ^b   Ramsden, S ^c   Schlottmann, P G ^a   Jenkins, S A ^b   Blyth, C ^d   Black, G C ^e,g   McKie, N ^f   Webster, A R ^a,b  

^a MOORFIELDS EYE HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c National Genetics Reference Laboratory   (United Kingdom)

^d ROYAL GWENT HOSPITAL   (United Kingdom)

^e ST MARY S HOSPITAL   (United Kingdom)

^f WELLCOME RESEARCH LABORATORIES   (United Kingdom)

^g MANCHESTER ROYAL EYE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CYSTEINE; GLUTAMIC ACID; GUANINE; LYSINE; TISSUE INHIBITOR OF METALLOPROTEINASE 3;

ADULT; ARTICLE; CASE REPORT; DIMERIZATION; DRUSEN; GENE FREQUENCY; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CODE; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HUMAN CHROMOSOME; IN VITRO STUDY; INTRON; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PIGMENT CELL; PRIORITY JOURNAL; RETINA MACULOPATHY; SORSBY FUNDUS DYSTROPHY; VISUAL DISORDER;

FEMALE; FUNDUS OCULI; GENE FREQUENCY; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; RETINAL DISEASES; SEQUENCE ANALYSIS, DNA; TISSUE INHIBITOR OF METALLOPROTEINASE-3; TOMOGRAPHY, OPTICAL COHERENCE;

EID: 67650073274     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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