Article
A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae.
Investigative ophthalmology & visual science - 1 Dec 2010
Christensen Anne E, Fiskerstrand Torunn, Knappskog Per M, Boman Helge, Rødahl Eyvind
Abstract excerpt
PURPOSE: To examine the ocular malformations and identify the molecular genetic basis for autosomal recessive ectopia lentis et pupillae in five Norwegian families. METHODS: Ten affected persons and 11 first-degree relatives of five Norwegian families underwent ophthalmic and general medical examination. Molecular genetic studies included homozygosity mapping with SNP markers, DNA sequencing, and RT-PCR analysis....
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