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Molecular genetics of cataract.
Kannabiran C, Balasubramanian D. Kannabiran C, et al. Indian J Ophthalmol. 2000 Mar;48(1):5-13. Indian J Ophthalmol. 2000. PMID: 11271936 Review.
Mutational analysis of the RB1 gene in Indian patients with retinoblastoma.
Ata-ur-Rasheed M, Vemuganti Gk, Honavar Sg, Ahmed N, Hasnain Se, Kannabiran C. Ata-ur-Rasheed M, et al. Ophthalmic Genet. 2002 Jun;23(2):121-8. doi: 10.1076/opge.23.2.121.2211. Ophthalmic Genet. 2002. PMID: 12187430
Mutational screening of the RB1 gene in Indian patients with retinoblastoma reveals eight novel and several recurrent mutations.
Kiran VS, Kannabiran C, Chakravarthi K, Vemuganti GK, Honavar SG. Kiran VS, et al. Hum Mutat. 2003 Oct;22(4):339. doi: 10.1002/humu.9181. Hum Mutat. 2003. PMID: 12955724
These are g.64365T>G (Tyr325Ter), g.78131G>A (Trp515Ter), g.150061G>T (Glu587Ter), g.170383C>G (S834X), g.41924A>C (IVS3-2A>C), g.150064ins4, g.160792del22, and g.76940del14 (IVS15 del +20-33). ...
These are g.64365T>G (Tyr325Ter), g.78131G>A (Trp515Ter), g.150061G>T (Glu587Ter), g.170383C>G (S834X), g.41924A>C (IV …
Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India.
Sultana A, Sridhar MS, Jagannathan A, Balasubramanian D, Kannabiran C, Klintworth GK. Sultana A, et al. Mol Vis. 2003 Dec 22;9:730-4. Mol Vis. 2003. PMID: 14735064
It is caused by mutations in the carbohydrate sulfotransferase-6 (CHST6) gene, encoding corneal N-acetyl glucosamine-6-O-sulfotransferase (C-GlcNAc-6-ST). ...
It is caused by mutations in the carbohydrate sulfotransferase-6 (CHST6) gene, encoding corneal N-acetyl glucosamine-6-O-sulfotransferase ( …
TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients.
Chakravarthi SV, Kannabiran C, Sridhar MS, Vemuganti GK. Chakravarthi SV, et al. Invest Ophthalmol Vis Sci. 2005 Jan;46(1):121-5. doi: 10.1167/iovs.04-0440. Invest Ophthalmol Vis Sci. 2005. PMID: 15623763
Genotype-phenotype correlation in 2 Indian families with severe granular corneal dystrophy.
Kannabiran C, Sridhar MS, Chakravarthi SK, Vemuganti GK, Lakshmipathi M. Kannabiran C, et al. Arch Ophthalmol. 2005 Aug;123(8):1127-33. doi: 10.1001/archopht.123.8.1127. Arch Ophthalmol. 2005. PMID: 16087849
RESULTS: A C-->T mutation at residue 1710 of TGFBI complementary DNA, corresponding to an Arg555Trp mutation in keratoepithelin, was found in affected members of both families. ...
RESULTS: A C-->T mutation at residue 1710 of TGFBI complementary DNA, corresponding to an Arg555Trp mutation in keratoepithelin, w …
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