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Citrullinaemia type I: a common mutation in the Pacific Island population.
Glamuzina E, Marquis-Nicholson R, Knoll D, Love DR, Wilson C. Glamuzina E, et al. Among authors: marquis nicholson r. J Paediatr Child Health. 2011 May;47(5):262-5. doi: 10.1111/j.1440-1754.2010.01948.x. Epub 2011 Jan 18. J Paediatr Child Health. 2011. PMID: 21244552
The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry.
Roxburgh RH, Marquis-Nicholson R, Ashton F, George AM, Lea RA, Eccles D, Mossman S, Bird T, van Gassen KL, Kamsteeg EJ, Love DR. Roxburgh RH, et al. Among authors: marquis nicholson r. J Neurol. 2013 May;260(5):1286-94. doi: 10.1007/s00415-012-6792-z. Epub 2012 Dec 27. J Neurol. 2013. PMID: 23269439
SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia.
Nickerson SL, Marquis-Nicholson R, Claxton K, Ashton F, Leong IU, Prosser DO, Love JM, George AM, Taylor G, Wilson C, Gardner RJ, Love DR. Nickerson SL, et al. Among authors: marquis nicholson r. Microarrays (Basel). 2015 Oct 23;4(4):490-502. doi: 10.3390/microarrays4040490. Microarrays (Basel). 2015. PMID: 27600236 Free PMC article.
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