Phenotype-genotype correlation in patients with schnyder corneal dystrophy

Cornea

Volumn 33, Issue 5, 2014, Pages 497-503

  Nowinska, Anna K ^a   Wylegala, Edward ^a   Teper, Sławomir ^a   Lyssek Boron, Anita ^b   Aragona, Pasquale ^c   Roszkowska, Anna M ^c   Micali, Antonio ^d   Pisani, Antonina ^d   Puzzolo, Domenico ^d  

^a MEDICAL UNIVERSITY OF SILESIA   (Poland)

^b Department of Ophthalmology Saint Barbara Hospital   (Poland)

^c Departments of Experimental Medical Surgical Sciences Ocular Surface Diseases Unit   (Italy)

^d UNIVERSITY OF MESSINA   (Italy)

Author keywords

Corneal stroma; Schnyder corneal dystrophy; UbiA prenyltransferase domain containing protein 1

Indexed keywords

ADULT; AGED; ARTICLE; CELL VACUOLE; CLINICAL ARTICLE; CODON; CONFOCAL MICROSCOPY; CORNEA DYSTROPHY; CORNEA THICKNESS; DESCEMET MEMBRANE; FEMALE; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HISTOLOGY; HUMAN; MALE; MISSENSE MUTATION; OPTICAL COHERENCE TOMOGRAPHY; OPTICAL COHERENCE TOMOGRAPHY DEVICE; PENETRATING KERATOPLASTY; PHENOTYPE; PRIORITY JOURNAL; SCHNYDER CORNEAL DYSTROPHY; SLIT LAMP; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; UBIAD1 GENE;

AGED; CORNEAL DYSTROPHIES, HEREDITARY; DIMETHYLALLYLTRANSTRANSFERASE; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; KERATOPLASTY, PENETRATING; MALE; MICROSCOPY, CONFOCAL; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY;

EID: 84897577753     PISSN: 02773740     EISSN: 15364798     Source Type: Journal    
DOI: 10.1097/ICO.0000000000000090     Document Type: Article

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