Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: A role for norrin in retinal angiogenesis

Human Molecular Genetics

Volumn 8, Issue 11, 1999, Pages 2031-2035

  Black, Graeme C M ^a,b   Perveen, Rahat ^a   Bonshek, Richard ^b,c   Cahill, Mark ^d   Clayton Smith, Jill ^a   Lloyd, I Christopher ^b   McLeod, David ^b  

^a ST MARY S HOSPITAL   (United Kingdom)

^b MANCHESTER ROYAL EYE HOSPITAL   (United Kingdom)

^c UNIVERSITY OF MANCHESTER   (United Kingdom)

^d CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

LIPID; NORRIN; PROTEIN; UNCLASSIFIED DRUG;

ANGIOGENESIS; ARTICLE; CHROMOSOME XP; CLINICAL ARTICLE; CONTROLLED STUDY; EXUDATIVE RETINITIS; FEMALE; HUMAN; HUMAN TISSUE; LIPID STORAGE; MALE; MISSENSE MUTATION; NORRIE DISEASE; PRIORITY JOURNAL; RETINA BLOOD VESSEL; SOMATIC MUTATION;

AMINO ACID SUBSTITUTION; BLINDNESS; CHILD; DOSAGE COMPENSATION, GENETIC; EYE ENUCLEATION; EYE PROTEINS; FEMALE; HETERODUPLEX ANALYSIS; HUMANS; INFANT, NEWBORN; MALE; MOSAICISM; MUTATION, MISSENSE; NEOVASCULARIZATION, PATHOLOGIC; NEOVASCULARIZATION, PHYSIOLOGIC; NERVE TISSUE PROTEINS; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RETINA; RETINAL DETACHMENT; RETINAL DISEASES; RETINAL DYSPLASIA; RETINAL VESSELS; SYNDROME; TELANGIECTASIS; X CHROMOSOME;

EID: 0032837154     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.11.2031     Document Type: Article

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