Article
Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity.
Investigative ophthalmology & visual science - 16 Jun 2011
Khan Kamron, Al-Maskari Ahmed, McKibbin Martin, Carr Ian M, Booth Adam, Mohamed Moin, Siddiqui Salina, Poulter James A, Parry David A, Logan Clara V, Hashmi Anwar, Sahi Tehseen, Jafri Hussain, Raashid Yasmin, Johnson Colin A, Markham Alex F, Toomes Carmel, Rice Aine, Sheridan Eamonn, Inglehearn Chris F, Ali Manir
Abstract excerpt
PURPOSE: To investigate whether three consanguineous families from the Punjab province of Pakistan, with affected members with recessively inherited congenital cataract microcornea with corneal opacity, are genetically homogeneous. METHODS: An ophthalmic examination was performed on each family member to establish the diagnosis. The two largest families were analyzed by homozygosity mapping using SNP arrays....
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