TGFBI mutation screening and genotype-phenotype correlation in north Indian patients with corneal dystrophies

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 fo...

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Main Authors: Paliwal, Preeti, Sharma, Arundhati, Tandon, Radhika, Sharma, Namrata, Titiyal, Jeewan S., Sen, Seema, Kaur, Punit, Dube, Divya, Vajpayee, Rasik B.
Format: Artigo
Language:Inglês
Published: Molecular Vision 2010
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2913140/
https://ncbi.nlm.nih.gov/pubmed/20680100
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