Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31
Deery, Evelyne C., Vithana, Eranga N., Newbold, Richard J., Gallon, Victoria A., Bhattacharya, Shomi S., Warren, Martin. J., Hunt, David M., Wilkie, Susan E.
Published in Human molecular genetics (01.12.2002)
Published in Human molecular genetics (01.12.2002)
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Identification and Functional Consequences of a New Mutation (E155G) in the Gene for GCAP1 That Causes Autosomal Dominant Cone Dystrophy
Wilkie, Susan E., Li, Yang, Deery, Evelyne C., Newbold, Richard J., Garibaldi, Daniel, Bateman, J. Bronwyn, Zhang, Heidi, Lin, Wei, Zack, Donald J., Bhattacharya, Shomi S., Warren, Martin J., Hunt, David M., Zhang, Kang
Published in American journal of human genetics (01.09.2001)
Published in American journal of human genetics (01.09.2001)
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The destabilization of human GCAP1 by a proline to leucine mutation might cause cone-rod dystrophy
NEWBOLD, Richard J, DEERY, Evelyne C, WALKER, Caroline E, WILKIE, Susan E, SRINIVASAN, Narayanaswamy, HUNT, David M, BHATTACHARYA, Shomi S, WARREN, Martin J
Published in Human molecular genetics (2001)
Published in Human molecular genetics (2001)
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Purification, characterisation and intracellular localisation of aryl hydrocarbon interacting protein-like 1 (AIPL1) and effects of mutations associated with inherited retinal dystrophies
Gallon, Victoria A., Wilkie, Susan E., Deery, Evelyne C., Newbold, Richard J., Sohocki, Melanie M., Bhattacharya, Shomi S., Hunt, David M., Warren, Martin J.
Published in Biochimica et biophysica acta (14.10.2004)
Published in Biochimica et biophysica acta (14.10.2004)
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In vitro membrane-inserted conformation of the cytochrome b5 tail
HANLON, Michael R., BEGUM, Rukhsana R., NEWBOLD, Richard J., WHITFORD, David, WALLACE, B. A.
Published in Biochemical journal (15.11.2000)
Published in Biochemical journal (15.11.2000)
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In vitro membrane-inserted conformation of the cytochrome b5 tail
HANLON, Michael R., BEGUM, Rukhsana R., NEWBOLD, Richard J., WHITFORD, David, WALLACE, B.A.
Published in Biochemical journal (15.11.2000)
Published in Biochemical journal (15.11.2000)
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Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin
Berry, Vanita, Mackay, Donna, Khaliq, Shagufta, Francis, Peter J., Hameed, Abdul, Anwar, Khalid, Qasim Mehdi, S., Newbold, Richard J., Ionides, Alex, Shiels, Alan, Moore, Tony, Bhattacharya, Shomi S.
Published in Human genetics (01.08.1999)
Published in Human genetics (01.08.1999)
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Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy
WILKIE, Susan E, NEWBOLD, Richard J, DEERY, Evelyne, WALKER, Caroline E, STINTON, Inez, RAMAMURTHY, Visvanathan, HURLEY, James B, BHATTACHARYA, Shomi S, WARREN, Martin J, HUNT, David M
Published in Human molecular genetics (12.12.2000)
Published in Human molecular genetics (12.12.2000)
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Purification of the membrane binding domain of cytochrome b5 by immobilised nickel chelate chromatography
Begum, Rukhsana R, Newbold, Richard J, Whitford, David
Published in Journal of chromatography. B, Biomedical sciences and applications (14.01.2000)
Published in Journal of chromatography. B, Biomedical sciences and applications (14.01.2000)
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