Analyses of a novel L130F missense mutation in FOXC1

Archives of Ophthalmology

Volumn 125, Issue 1, 2007, Pages 128-135

  Ito, Yoko A ^a   Footz, Tim K ^a   Murphy, Tara C ^a   Courtens, Winnie ^b   Walter, Michael A ^a  

^a UNIVERSITY OF ALBERTA   (Canada)

^b ANTWERP UNIVERSITY HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; TRANSCRIPTION FACTOR FOXC1;

ADULT; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; AXENFELD RIEGER SYNDROME; CASE REPORT; CELL NUCLEUS; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENE CONSTRUCT; GENETIC ANALYSIS; HUMAN; HUMAN CELL; IMMUNOBLOTTING; MALE; MISSENSE MUTATION; MOLECULAR WEIGHT; NONHUMAN; PRIORITY JOURNAL; PROTEIN DNA BINDING; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN PHOSPHORYLATION; PROTEIN TRANSPORT; REPORTER GENE; RIEGER SYNDROME; SITE DIRECTED MUTAGENESIS; WILD TYPE;

ABNORMALITIES, MULTIPLE; ADULT; ANIMALS; ANTERIOR EYE SEGMENT; CELL CULTURE TECHNIQUES; CERCOPITHECUS AETHIOPS; COS CELLS; ELECTROPHORETIC MOBILITY SHIFT ASSAY; EYE ABNORMALITIES; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; HUMANS; IRIS; MALE; MICROSCOPY, FLUORESCENCE; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; PLASMIDS; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; TOOTH ABNORMALITIES;

EID: 33846089715     PISSN: 00039950     EISSN: 00039950     Source Type: Journal    
DOI: 10.1001/archopht.125.1.128     Document Type: Article

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