Now showing items 1-2 of 2
Investigation of crystallin genes in familial cataract, and report of two disease associated mutations.
(BMJ Publishing Group - http://bjo.bmjjournals.com/, 2004-01)
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: ...
The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes.
(BMJ Publishing Group - http://bjo.bmjjournals.com/, 2005-07)
AIMS: Multiple genetic causes of congenital cataract have been identified, both as a component of syndromes and in families that present with isolated congenital cataract. Linkage analysis was used to map the genetic locus ...