A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance.

Journal of medical genetics

Volumn 41, Issue 8, 2004, Pages

  Burdon, K P ^a   Wirth, M G ^a   Mackey, D A ^a   Russell Eggitt, I M ^a   Craig, J E ^a   Elder, J E ^a   Dickinson, J L ^a   Sale, M M ^a  

^a UNIVERSITY OF TASMANIA   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 46; GAP JUNCTION PROTEIN;

ADOLESCENT; ADULT; ARTICLE; AUSTRALIA; CATARACT; CHILD; DOMINANT GENE; FEMALE; GENETICS; HUMAN; INFANT; MALE; MIDDLE AGED; MISSENSE MUTATION; MUTATION; NEWBORN; PEDIGREE; PENETRANCE; PRESCHOOL CHILD;

ADOLESCENT; ADULT; AUSTRALIA; CATARACT; CHILD; CHILD, PRESCHOOL; CONNEXINS; FEMALE; GENES, DOMINANT; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; PEDIGREE; PENETRANCE;

EID: 16544394632     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2004.018333     Document Type: Article

References (0)