PAX6 missense mutations associated in patients with optic nerve malformation

Molecular Vision

Volumn 12, Issue , 2006, Pages 236-242

  Nallathambi, Jeyabalan ^a   Neethirajan, Guruswamy ^a   Shashikant, Shetty ^b   Vijayalakshmi, Perumalsamy ^b   Sundaresan, Periasamy ^a  

^a ARAVIND MEDICAL RESEARCH FOUNDATION   (India)

^b ARAVIND EYE HOSPITAL   (India)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; CYSTEINE; GENOMIC DNA; GLYCINE; TRANSCRIPTION FACTOR PAX6;

ADOLESCENT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL FEATURE; CODON; COLOBOMA; CONTROLLED STUDY; DNA BINDING; DNA ISOLATION; FAMILY; FEMALE; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; INDIAN; INFANT; INFORMED CONSENT; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NERVE MALFORMATION; OPTIC DISK; OPTIC NERVE DISEASE; OPTIC NERVE HYPOPLASIA; PATHOGENESIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; SINGLE STRAND CONFORMATION POLYMORPHISM;

ABNORMALITIES; ADOLESCENT; ALANINE; AMINO ACID SUBSTITUTION; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; EYE PROTEINS; FEMALE; GENE FREQUENCY; GLYCINE; HOMEODOMAIN PROTEINS; HUMANS; INDIA; INFANT; MALE; MUTATION, MISSENSE; OPTIC NERVE; PAIRED BOX TRANSCRIPTION FACTORS; REPRESSOR PROTEINS;

EID: 33645407400     PISSN: 10900535     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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