Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome

Human Molecular Genetics

Volumn 10, Issue 16, 2001, Pages 1631-1638

  Priston, Megan ^a   Kozlowski, Kathy ^b   Gill, Dan ^a   Letwin, Ken ^a   Buys, Yvonne ^a   Levin, Alex V ^c   Walter, Mike A ^b   Héon, Elise ^a,c  

^a TORONTO WESTERN HOSPITAL   (Canada)

^b UNIVERSITY OF ALBERTA   (Canada)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; DNA; HOMEODOMAIN PROTEIN; LEUCINE; LUCIFERASE; MUTANT PROTEIN; TRANSCRIPTION FACTOR PITX2; UNCLASSIFIED DRUG; VALINE;

ALLELE; AMINO ACID SEQUENCE; ANIMAL CELL; ANTERIOR EYE SEGMENT; ARTICLE; AXENFELD RIEGER SYNDROME; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; DNA BINDING; EYE MALFORMATION; FUNCTIONAL ASSESSMENT; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HYPOTHESIS; MISSENSE MUTATION; MOLECULAR DYNAMICS; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DOMAIN; PROTEIN FOLDING; REPORTER GENE; RIEGER SYNDROME; SEQUENCE ANALYSIS; TRANSACTIVATION;

ANIMALIA;

EID: 0035423316     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.16.1631     Document Type: Article

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