Journal article

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

KP Burdon, MG Wirth, DA Mackey, IM Russell-Eggitt, JE Craig, JE Elder, JL Dickinson, MM Sale

Journal of Medical Genetics | BMJ PUBLISHING GROUP | Published : 2004

DOI: 10.1136/jmg.2004.018333

University of Melbourne Researchers

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Keywords

Genetics
Genetics & Heredity
Posterior Polar Cataract
Eye Disease and Disorders of Vision
Missense Mutation
Congenital Structural Anomalies
Lamellar
Science & Technology
Rare Diseases
Pediatric Research Initiative
Crystallin Gene
Locus
Prediction
Onset
3212 Ophthalmology and Optometry
Pulverulent Cataract
Family
32 Biomedical and Clinical Sciences
Gja8
Life Sciences & Biomedicine