Novel and de-novo truncating PAX6 mutations and ocular phenotypes in Thai aniridia patientsn

Ophthalmic Genetics

Volumn 27, Issue 1, 2006, Pages 21-27

  Atchaneeyasakul, La Ongsri ^a   Trinavarat, Adisak ^a   Dulayajinda, Dhaivadee ^a   Kumpornsin, Kornphet ^a   Thongnoppakhun, Wanna ^a   Yenchitsomanus, Pa Thai ^a   Limwongse, Chanin ^a  

^a MAHIDOL UNIVERSITY   (Thailand)

Author keywords

Aniridia; Ectopia lentis; Foveal hypoplasia; Juvenile onset glaucoma; PAX6

Indexed keywords

TRANSCRIPTION FACTOR PAX6;

ANIRIDIA; ARTICLE; CATARACT; CLINICAL EXAMINATION; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DNA EXTRACTION; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC SCREENING; GLAUCOMA; HUMAN; HUMAN CELL; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN FUNCTION; SINGLE STRAND CONFORMATION POLYMORPHISM; THAILAND;

ADOLESCENT; ADULT; AGED; ANIRIDIA; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EYE; EYE PROTEINS; FEMALE; GENOTYPE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MIDDLE AGED; PAIRED BOX TRANSCRIPTION FACTORS; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REPRESSOR PROTEINS; SEQUENCE DELETION; THAILAND; VISUAL ACUITY;

EID: 33645100901     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810500481667     Document Type: Article

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