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Number of items: 6.
Article
| Wilkie, Susan E. and Vaclavik, Veronika and Wu, Huimin and Bujakowska, Kinga and Chakarova, Christina F. and Bhattacharya, Shomi S. and Warren, Martin J. and Hunt, David M. (2008) Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31. Molecular Vision, 14 (81-83). pp. 683-690. ISSN 1090-0535. (The full text of this publication is not currently available from this repository. You may be able to access a copy if URLs are provided) |
| Deery, Evelyne and Vithana, Eranga N. and Newbold, Richard J. and Gallon, Victoria A. and Bhattacharya, Shomi S. and Warren, Martin J. and Hunt, David M. and Wilkie, Susan E. (2002) Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31. Human Molecular Genetics, 11 (25). pp. 3209-3219. ISSN 0964-6906. (doi:https://doi.org/10.1093/hmg/11.25.3209) (The full text of this publication is not currently available from this repository. You may be able to access a copy if URLs are provided) |
| Wilkie, Susan E. and Stinton, Inez and Cottrill, Philippa and Deery, Evelyne and Newbold, Richard J. and Warren, Martin J. and Bhattacharya, Shomi S. and Hunt, David M. (2002) Characterisation of two genes for guanylate cyclase activator protein (GCAP1 and GCAP2) in the Japanese pufferfish, Fugu rubripes. Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression, 1577 (1). pp. 73-80. ISSN 0167-4781. (doi:https://doi.org/10.1016/S0167-4781(02)00413-X) (The full text of this publication is not currently available from this repository. You may be able to access a copy if URLs are provided) |
| Wilkie, Susan E. and Liu, Yange and Deery, Evelyne and Newbold, Richard J. and Garibaldi, Daniel and Bateman, J. Bronwyn and Zhang, Heidi and Lin, Wei and Zack, Donald J. and Bhattacharya, Shomi S. and Warren, Martin J. and Hunt, David M. and Zhang, Kang (2001) Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy. American Journal Humman Genetics, 69 (3). pp. 471-80. ISSN 0002-9297. (The full text of this publication is not currently available from this repository. You may be able to access a copy if URLs are provided) |
| Sokal, Izabela and Li, Ning and Surgucheva, Irina and Warren, Martin J. and Payne, Annette and Bhattacharya, Shomi S. and Baehr, Wolfgang and Palczewski, Krzysztof (1998) GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophy. Molecular Cell, 2 (1). pp. 129-33. ISSN 1097-2765. (doi:https://doi.org/10.1016/S1097-2765(00)80121-5) (The full text of this publication is not currently available from this repository. You may be able to access a copy if URLs are provided) |
Book section
| Hunt, David M. and Wilkie, Susan E. and Newbold, Richard J. and Deery, Evelyne and Warren, Martin J. and Bhattacharya, Shomi S. and Zhang, Kang (2004) Dominant cone and cone-rod dystrophies: functional analysis of mutations in retGC1 and GCAP1. In: Bock, Gregory and Chader, Gerry and Goode, Jamie, eds. Retinal Dystrophies: Functional Genomics to Gene Therapy. Novartis Foundation Symposia, 255 . John Wiley & Sons, pp. 37-49. ISBN 978-0-470-85357-3. (doi:https://doi.org/10.1002/0470092645.ch4) (The full text of this publication is not currently available from this repository. You may be able to access a copy if URLs are provided) |
