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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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Bibliografski detalji
Glavni autori: Paliwal, Preeti, Sharma, Arundhati, Tandon, Radhika, Sharma, Namrata, Titiyal, Jeewan S., Sen, Seema, Kaur, Punit, Dube, Divya, Vajpayee, Rasik B.
Format: Artigo
Jezik:Inglês
Izdano: Molecular Vision 2010
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2913140/
https://ncbi.nlm.nih.gov/pubmed/20680100
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