Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene

Investigative Ophthalmology and Visual Science

Volumn 51, Issue 1, 2010, Pages 47-52

  Christensen, Anne E ^a,b   Knappskog, Per M ^a,b   Midtbø, Marit ^b   Gjesdal, Clara G ^a   From, Jonas Mengel ^c   Morling, Niels ^c   Rødahl, Eyvind ^a,b   Boman, Helge ^a,b  

^a HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^b UNIVERSITY OF BERGEN   (Norway)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; ARGININE; BIOCHEMICAL MARKER; COLLAGEN FIBRIL; CYSTEINE; GENOMIC DNA; GUANINE; MELANOCORTIN 1 RECEPTOR; PARATHYROID HORMONE; PROTEIN ZNF469; TYROSINE; UNCLASSIFIED DRUG; VITAMIN D; ZINC FINGER PROTEIN; TRANSCRIPTION FACTOR; ZNF469 PROTEIN, HUMAN;

ADULT; ARTICLE; BLINDNESS; BONE DENSITY; BONE TURNOVER; BRITTLE CORNEA SYNDROME; CLINICAL ARTICLE; CONTROLLED STUDY; CORNEA DISEASE; DNA SEQUENCE; FAMILY STUDY; FEMALE; GENE; GENE LOCUS; GENE MAPPING; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HAIR COLOR; HEARING LOSS; HEART DISEASE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; PARATHYROID HORMONE BLOOD LEVEL; PRIORITY JOURNAL; RETINA DETACHMENT; SCOLIOSIS; SECONDARY GLAUCOMA; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN BIOPSY; TOOTH MALFORMATION; TRANSMISSION ELECTRON MICROSCOPY; VITAMIN BLOOD LEVEL; ZINC FINGER 469 GENE; ZINC FINGER MOTIF; AGED; BLOOD; ENAMEL HYPOPLASIA; GENETICS; MIDDLE AGED; PEDIGREE; POLYMERASE CHAIN REACTION; RADIOGRAPHY; SYNDROME;

ADULT; AGED; AGED, 80 AND OVER; BONE DENSITY; CORNEAL DISEASES; DENTAL ENAMEL HYPOPLASIA; FEMALE; GENOTYPE; HAIR COLOR; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PARATHYROID HORMONE; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTOR, MELANOCORTIN, TYPE 1; SCOLIOSIS; SEQUENCE ANALYSIS, DNA; SYNDROME; TRANSCRIPTION FACTORS; VITAMIN D; YOUNG ADULT;

EID: 75749119007     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.09-4251     Document Type: Article

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