Clinical and immunopathological corneal phenotype in homozygotes for the BIGH3 R124H mutation

Eye

Volumn 19, Issue 1, 2005, Pages 92-96

  Diaper, C J M ^a   Schorderet, D F ^b   Chaubert, P ^c   Munier, F L ^d  

^a SOUTHERN GENERAL HOSPITAL   (United Kingdom)

^b Institute of Research in Ophthalmology   (Switzerland)

^c LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^d JULES GONIN EYE HOSPITAL   (Switzerland)

Author keywords

Avellino; BIGH3 gene; Corneal dystrophies; Phototherapeutic keratoplasty

Indexed keywords

EYE PROTEIN; KERATOFEPITHELIN; POLYCLONAL ANTIBODY; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CASE REPORT; CONTACT LENS; CORNEA DYSTROPHY; CORNEA EROSION; CORNEA TRANSPLANTATION; CORNEA ULCER; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; GLAUCOMA; HETEROZYGOTE; HOMOZYGOTE; HUMAN; IMMUNOCHEMISTRY; IMMUNOPATHOLOGY; MALE; NYSTAGMUS; PEDIGREE ANALYSIS; PENETRATING KERATOPLASTY; PHENOTYPIC VARIATION; PHOTOPHOBIA; PHOTOREFRACTIVE KERATECTOMY; RECURRENT DISEASE; REFRACTION ERROR; SYMPTOMATOLOGY; VISUAL ACUITY;

EID: 13244266966     PISSN: 0950222X     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.eye.6701398     Document Type: Article

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