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A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment.
Davis RL, Homer VM, George PM, Brennan SO. Davis RL, et al. Hum Mutat. 2009 Feb;30(2):221-7. doi: 10.1002/humu.20839. Hum Mutat. 2009. PMID: 18853456
A family with haemolytic anaemia and three beta-globins: the deletion in haemoglobin Atlanta-Coventry (beta 75 Leu----Pro, 141 Leu deleted) is not present at the nucleotide level.
George PM, Myles T, Williamson D, Higuchi R, Symmans WA, Brennan SO. George PM, et al. Br J Haematol. 1992 May;81(1):93-8. doi: 10.1111/j.1365-2141.1992.tb08178.x. Br J Haematol. 1992. PMID: 1520631
Hypermutability of CpG dinucleotides in the propeptide-encoding sequence of the human albumin gene.
Brennan SO, Arai K, Madison J, Laurell CB, Galliano M, Watkins S, Peach R, Myles T, George P, Putnam FW. Brennan SO, et al. Proc Natl Acad Sci U S A. 1990 May;87(10):3909-13. doi: 10.1073/pnas.87.10.3909. Proc Natl Acad Sci U S A. 1990. PMID: 2339130 Free PMC article.
Superoxide dismutase (glu100-->gly) in a family with inherited motor neuron disease: detection of mutant superoxide dismutase activity and the presence of heterodimers.
Calder VL, Domigan NM, George PM, Donaldson IM, Winterbourn CC. Calder VL, et al. Neurosci Lett. 1995 Apr 21;189(3):143-6. doi: 10.1016/0304-3940(95)11476-d. Neurosci Lett. 1995. PMID: 7624031
Huntington's disease: diagnosis by amplification of the CAG repeat.
Upton JD, Avery S, Parkin P, George PM. Upton JD, et al. N Z Med J. 1995 Mar 8;108(995):78-80. N Z Med J. 1995. PMID: 7891947
Fibrinogen Lincoln: a new truncated alpha chain variant with delayed clotting.
Ridgway HJ, Brennan SO, Gibbons S, George PM. Ridgway HJ, et al. Br J Haematol. 1996 Apr;93(1):177-84. doi: 10.1046/j.1365-2141.1996.4681007.x. Br J Haematol. 1996. PMID: 8611457
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