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

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47Web of Science
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Keywords

Child
Mutation, Missense
Zonular Pulverulent Cataract
Lamellar
Child, Preschool
Infant, Newborn
Cataract
Adult
Australia
Connexins
Infant
Crystallin Gene
Life Sciences & Biomedicine
Genetics & Heredity
Humans
Gja8
Female
Posterior Polar Cataract
Missense Mutation
Adolescent
Mutation
Family
Genes, Dominant
Pedigree
Male
Topology Prediction
Locus
Onset
Penetrance
Middle Aged
Science & Technology