Phenotypic variations in patients with a 1630 A>T point mutation in the PAX6 gene

Canadian Journal of Ophthalmology

Volumn 39, Issue 3, 2004, Pages 272-278

  De Becker, Inge ^a   Walter, Michael ^b   Noël, Léon Paul ^c  

^a DALHOUSIE UNIVERSITY   (Canada)

^b UNIVERSITY OF ALBERTA   (Canada)

^c SUNY UPSTATE MEDICAL UNIVERSITY   (United States)

Author keywords

Aniridia; Iris coloboma; Keratopathy; Nystagmus; PAX6 gene; Phenotypic variations

Indexed keywords

DNA; TRANSCRIPTION FACTOR PAX6;

ADULT; ANIRIDIA; ARTICLE; CATARACT; CLINICAL ARTICLE; CONTROLLED STUDY; CORNEA LIMBUS; CORNEA OPACITY; DIVERGENT STRABISMUS; DNA DETERMINATION; DNA SEQUENCE; ELECTRORETINOGRAM; EXON; FAMILIAL DISEASE; FEMALE; GENE EXPRESSION; GLAUCOMA; HUMAN; HUMAN CELL; IRIS COLOBOMA; KERATOPATHY; MALE; NUCLEIC ACID BASE SUBSTITUTION; NYSTAGMUS; OPHTHALMOSCOPY; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; SCHOOL CHILD; SLIT LAMP; STEM CELL TRANSPLANTATION; VISUAL ACUITY;

EID: 2442586501     PISSN: 00084182     EISSN: 17153360     Source Type: Journal    
DOI: 10.1016/S0008-4182(04)80125-X     Document Type: Article

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