A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome

Ophthalmic Genetics

Volumn 25, Issue 1, 2004, Pages 57-62

  Brooks, Brian P ^a,c,f   Moroi, Sayoko E ^a   Downs, Catherine A ^a   Wiltse, Shannon ^a,d   Othman, Mohammad I ^a   Semina, Elena V ^e   Richards, Julia E ^a,b  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF MICHIGAN   (United States)

^c NATIONAL EYE INSTITUTE   (United States)

^d ST JOSEPH MERCY HOSPITAL   (United States)

^e MEDICAL COLLEGE OF WISCONSIN   (United States)

^f NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

Axenfeld Rieger syndrome; Glaucoma; Homeobox; PITX2

Indexed keywords

AMINO ACID; THYMINE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR PITX2; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AXENFELD RIEGER SYNDROME; CARBOXY TERMINAL SEQUENCE; CODON; CONTROLLED STUDY; DNA BINDING; DOWNSTREAM PROCESSING; EXON; EYE DISEASE; FAMILY; FEMALE; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; HUMAN; MALE; MOLECULAR CLONING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; SYNDROME;

ABNORMALITIES, MULTIPLE; ADULT; ANODONTIA; ANTERIOR EYE SEGMENT; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FRAMESHIFT MUTATION; GLAUCOMA; HOMEODOMAIN PROTEINS; HUMANS; IRIS; MIDDLE AGED; MYOPIA; PEDIGREE; POLYMERASE CHAIN REACTION; SYNDROME; TRANSCRIPTION FACTORS;

EID: 1942422639     PISSN: 13816810     EISSN: None     Source Type: Journal    
DOI: 10.1076/opge.25.1.57.29002     Document Type: Article

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