Article
TGFBI mutation screening and genotype-phenotype correlation in north Indian patients with corneal dystrophies.
Molecular vision - 29 Jul 2010
Paliwal Preeti, Sharma Arundhati, Tandon Radhika, Sharma Namrata, Titiyal Jeewan S, Sen Seema, Kaur Punit, Dube Divya, Vajpayee Rasik B
Abstract excerpt
PURPOSE: To screen a cohort of corneal dystrophy patients from North India for mutations in the transforming growth factor beta induced (TGFBI) gene, to correlate genotypes to phenotypes, to describe structural implications of various mutations on protein function, and to discuss the implications for diagnosis. METHODS: Eighty affected individuals from 61 unrelated families, who were diagnosed with autosomal...
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