A large GLC1C Greek family with a myocilin T377M mutation: Inheritance and phenotypic variability

Investigative Ophthalmology and Visual Science

Volumn 47, Issue 2, 2006, Pages 620-625

  Petersen, Michael B ^a   Kitsos, George ^b   Samples, John R ^c   Gaudette, N Donna ^c   Economou Petersen, Effrosini ^d   Sykes, Renée ^c   Rust, Kristal ^c   Grigoriadou, Maria ^a   Aperis, George ^a   Choi, Dongseok ^e   Psilas, Konstantinos ^b   Craig, Jamie E ^f   Kramer, Patricia L ^e   Mackey, David A ^f   Wirtz, Mary K ^c  

^a Institute of Child Health   (Greece)

^b UNIVERSITY OF IOANNINA   (Greece)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^d National Blood Center   (Greece)

^e OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^f UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME PROTEIN; PROTEIN MYOCILIN; UNCLASSIFIED DRUG; CYTOSKELETON PROTEIN; EYE PROTEIN; GLYCOPROTEIN; MYOCILIN; TRABECULAR MESHWORK-INDUCED GLUCOCORTICOID RESPONSE PROTEIN;

ADULT; AGED; ARTICLE; CHROMOSOME 3; CONTROLLED STUDY; EXON; GENE MAPPING; GENE MUTATION; GENOTYPE; GROUPS BY AGE; HAPLOTYPE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MAJOR CLINICAL STUDY; OPEN ANGLE GLAUCOMA; PHENOTYPE; PRIORITY JOURNAL; CHROMOSOME 1; ETHNOLOGY; FEMALE; GENETICS; GREECE; HETERODUPLEX ANALYSIS; INHERITANCE; MALE; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; POLYMERASE CHAIN REACTION;

ADULT; AGED; AGED, 80 AND OVER; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 3; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; EXONS; EYE PROTEINS; FEMALE; GENOTYPE; GLAUCOMA, OPEN-ANGLE; GLYCOPROTEINS; GREECE; HAPLOTYPES; HETERODUPLEX ANALYSIS; HUMANS; INHERITANCE PATTERNS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 33644865523     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.05-0631     Document Type: Article

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