Investigation of crystallin genes in familial cataract, and report of two disease associated mutations

Aims: Mutations of seven crystallin genes have been shown to cause familial cataract. The authors aimed to identify disease causing crystallin mutations in paediatric cataract families from south eastern Australia. Methods: 38 families with autosomal dominant or recessive paediatric cataract were ex...

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Autors principals: Burdon, K P, Wirth, M G, Mackey, D A, Russell-Eggitt, I M, Craig, J E, Elder, J E, Dickinson, J L, Sale, M M
Format: Artigo
Idioma:Inglês
Publicat: Copyright 2004 British Journal of Ophthalmology 2004
Matèries:
Clinical Science - Extended Reports
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1771940/
https://ncbi.nlm.nih.gov/pubmed/14693780
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