Variation in residual PITX2 activity underlies the phenotypic spectrum of anterior segment developmental disorders

Human Molecular Genetics

Volumn 9, Issue 14, 2000, Pages 2131-2139

  Kozlowski, Kathy ^a   Walter, Michael A ^a  

^a UNIVERSITY OF ALBERTA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; COMPLEMENTARY DNA; GLYCINE; HISTIDINE; HOMEODOMAIN PROTEIN; LEUCINE; MUTANT PROTEIN; PROLINE; THREONINE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR PITX2; UNCLASSIFIED DRUG;

ALLELE; ANIMAL CELL; ANTERIOR EYE SEGMENT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CELL NUCLEUS; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; DNA BINDING; GLAUCOMA; IRIS DISEASE; MALFORMATION SYNDROME; MISSENSE MUTATION; NONHUMAN; NUCLEAR LOCALIZATION SIGNAL; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN STABILITY; RIEGER SYNDROME; SEQUENCE HOMOLOGY; SITE DIRECTED MUTAGENESIS;

ANIMALIA;

EID: 0034284545     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.14.2131     Document Type: Article

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