Different ocular abnormalities in individuals of a three-generation family caused by a new nonsense mutation in the PST domain of the PAX6 gene. Mutations in brief no. 189. Online.

Human mutation

Volumn 12, Issue 4, 1998, Pages 288-

  Syagailo, Y ^a   Wilke, K ^a   Okladnova, O ^a   Eigel, A ^a   Lemmens, M ^a   Kramarov, V ^a   Horst, J ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DNA BINDING PROTEIN; EYE PROTEIN; HOMEODOMAIN PROTEIN; PAIRED BOX TRANSCRIPTION FACTOR; PROLINE; REPRESSOR PROTEIN; SERINE; THREONINE; TRANSCRIPTION FACTOR PAX6;

ANIRIDIA; ARTICLE; GENETICS; HUMAN; MUTATION; STOP CODON;

ANIRIDIA; CODON, NONSENSE; DNA-BINDING PROTEINS; EYE PROTEINS; HOMEODOMAIN PROTEINS; HUMANS; MUTATION; PAIRED BOX TRANSCRIPTION FACTORS; PROLINE; REPRESSOR PROTEINS; SERINE; THREONINE;

EID: 0032222644     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)12:4<280::AID-HUMU11>3.0.CO;2-V     Document Type: Article

References (0)