Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans

American Journal of Human Genetics

Volumn 79, Issue 2, 2006, Pages 358-364

  Valleix, Sophie ^a,b,c,f   Niel, Florence ^a   Nedelec, Brigitte ^b,c   Algros, Marie Paule ^d   Schwartz, Claire ^e   Delbosc, Bernard ^e   Delpech, Marc ^a,b,c   Kantelip, Bernadette ^d  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b INSERM   (France)

^c INSTITUT COCHIN   (France)

^d UNIVERSITY HOSPITAL JEAN MINJOZ   (France)

^e UNIVERSITY HOSPITAL OF BESANÇON   (France)

^f Hôpital Cochin ^*  (France)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; MUTANT PROTEIN;

AGENESIS; ANTERIOR EYE SEGMENT; APHAKIA; APLASIA; ARTICLE; CHILD; CLINICAL ARTICLE; CONGENITAL PRIMARY APHAKIA; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; EMBRYO DEVELOPMENT; EYE DEVELOPMENT; FEMALE; FOXE3 GENE; GENE; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENE SEGREGATION; GENETIC ANALYSIS; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INFANT; LENS; LENS DEVELOPMENT; MALE; MICROPHTHALMIA; MOUSE; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; NULL ALLELE; PHENOTYPE; PRIORITY JOURNAL; RARE DISEASE;

EID: 33746492174     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/505654     Document Type: Article

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