Comparison between aniridia with and without PAX6 mutations: Clinical and molecular analysis in 14 Korean patients with aniridia

Ophthalmology

Volumn 119, Issue 6, 2012, Pages 1258-1264

  Lim, Hyun Taek ^a,b   Seo, Eul Ju ^a,b   Kim, Gu Hwan ^b   Ahn, Hyosook ^a   Lee, Hye Jin ^a   Shin, Kwang Hun ^a   Lee, Jong Keuk ^a   Yoo, Han Wook ^a,b  

^a University of Ulsan College of Medicine   (South Korea)

^b Asan Medical Center   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR PAX6; TRANSCRIPTION FACTOR PITX3;

ADOLESCENT; ADULT; ANIRIDIA; ARTICLE; CHILD; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; COMPARATIVE STUDY; COPY NUMBER VARIATION; EYE DISEASE; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; INFANT; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; OPHTHALMOLOGY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; ADULT; ANIRIDIA; CHILD, PRESCHOOL; EYE PROTEINS; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; HOMEODOMAIN PROTEINS; HUMANS; INFANT; KARYOTYPING; KOREA; MALE; MIDDLE AGED; MOLECULAR DIAGNOSTIC TECHNIQUES; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PAIRED BOX TRANSCRIPTION FACTORS; PHENOTYPE; POINT MUTATION; REPRESSOR PROTEINS;

EID: 84862799630     PISSN: 01616420     EISSN: 15494713     Source Type: Journal    
DOI: 10.1016/j.ophtha.2011.12.010     Document Type: Article

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