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Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate.
Atherosclerosis. 2005 Oct;182(2):331-40. doi: 10.1016/j.atherosclerosis.2005.02.016.
Atherosclerosis. 2005.
PMID: 16159606
Mutation screening and genotype:phenotype correlation in familial hypercholesterolaemia.
Graham CA, McClean E, Ward AJ, Beattie ED, Martin S, O'Kane M, Young IS, Nicholls DP.
Graham CA, et al. Among authors: beattie ed.
Atherosclerosis. 1999 Dec;147(2):309-16. doi: 10.1016/s0021-9150(99)00201-4.
Atherosclerosis. 1999.
PMID: 10559517
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Incidence of Fragile X syndrome in Ireland.
O'Byrne JJ, Sweeney M, Donnelly DE, Lambert DM, Beattie ED, Gervin CM, Barton DE, Lynch SA.
O'Byrne JJ, et al. Among authors: beattie ed.
Am J Med Genet A. 2017 Mar;173(3):678-683. doi: 10.1002/ajmg.a.38081. Epub 2017 Feb 3.
Am J Med Genet A. 2017.
PMID: 28157260
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Contiguous gene deletion syndrome involving glycerol kinase and Duchenne muscular dystrophy loci.
Asghar M, Nevin NC, Beattie ED, McManus D, Roberts GM, Phillips JA.
Asghar M, et al. Among authors: beattie ed.
J Inherit Metab Dis. 1999 Dec;22(8):933-5. doi: 10.1023/a:1005647608983.
J Inherit Metab Dis. 1999.
PMID: 10604146
No abstract available.
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