Novel mutations in the FOXC1 gene in Japanese patients with Axenfeld-Rieger syndrome

Molecular Vision

Volumn 13, Issue , 2007, Pages 1005-1009

  Fuse, Nobuo ^a   Takahashi, Kana ^b   Yokokura, Shunji ^a   Nishida, Kohji ^a  

^a TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Hiraka General Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; GENOMIC DNA; NUCLEOTIDE; PROLINE; RNA; TRANSCRIPTION FACTOR FOXC1;

ADULT; AGED; ANTERIOR EYE CHAMBER DISEASE; AORTA STENOSIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AXENFELD RIEGER SYNDROME; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FAMILY STUDY; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GLAUCOMA; HEARING LOSS; HEART ATRIUM SEPTUM DEFECT; HUMAN; HYPERTELORISM; INTRAOCULAR HYPERTENSION; IRIS DISEASE; JAPANESE; MALE; MISSENSE MUTATION; PEDIGREE ANALYSIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEPLETION; PROTEIN DOMAIN; PROTEIN SECONDARY STRUCTURE; PULMONARY VALVE STENOSIS; RNA TRANSLATION; SEGREGATION ANALYSIS; SEQUENCE ANALYSIS; TELECANTHUS; VISUAL SYSTEM EXAMINATION;

ABNORMALITIES, MULTIPLE; ADULT; ALANINE; ANTERIOR EYE SEGMENT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD, PRESCHOOL; EYE ABNORMALITIES; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; FRAMESHIFT MUTATION; GENE DELETION; GENES, DOMINANT; HUMANS; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PROLINE; PROTEIN STRUCTURE, TERTIARY; SYNDROME;

EID: 34347371552     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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