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IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome.
Tyson J, Tranebjaerg L, Bellman S, Wren C, Taylor JF, Bathen J, Aslaksen B, Sørland SJ, Lund O, Malcolm S, Pembrey M, Bhattacharya S, Bitner-Glindzicz M. Tyson J, et al. Among authors: bhattacharya s. Hum Mol Genet. 1997 Nov;6(12):2179-85. doi: 10.1093/hmg/6.12.2179. Hum Mol Genet. 1997. PMID: 9328483
Three sequence polymorphisms in the PDC gene.
Mansergh FC, Jordan SA, Farrar GJ, Kumar-Singh R, Gal A, Bhattacharya S, Humphries P. Mansergh FC, et al. Among authors: bhattacharya s. Hum Mol Genet. 1994 Nov;3(11):2077. Hum Mol Genet. 1994. PMID: 7874132 No abstract available.
Rhodopsin mutations in autosomal dominant retinitis pigmentosa.
al-Maghtheh M, Gregory C, Inglehearn C, Hardcastle A, Bhattacharya S. al-Maghtheh M, et al. Among authors: bhattacharya s. Hum Mutat. 1993;2(4):249-55. doi: 10.1002/humu.1380020403. Hum Mutat. 1993. PMID: 8401533 Review.
6,112 results