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PUBMED FOR HANDHELDS

Journal Abstract Search

127 related items for PubMed ID: 3263393

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  • 2. A nonsense mutation in the apolipoprotein C-IIPadova gene in a patient with apolipoprotein C-II deficiency.
    Fojo SS, Lohse P, Parrott C, Baggio G, Gabelli C, Thomas F, Hoffman J, Brewer HB.
    J Clin Invest; 1989 Oct; 84(4):1215-9. PubMed ID: 2477392
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  • 3. A G+1 to C mutation in a donor splice site of intron 2 in the apolipoprotein (apo) C-II gene in a patient with apo C-II deficiency. A possible interaction between apo C-II deficiency and apo E4 in a severely hypertriglyceridemic patient.
    Okubo M, Hasegawa Y, Aoyama Y, Murase T.
    Atherosclerosis; 1997 Apr; 130(1-2):153-60. PubMed ID: 9126659
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  • 7. Apolipoprotein C-II deficiency syndrome. Clinical features, lipoprotein characterization, lipase activity, and correction of hypertriglyceridemia after apolipoprotein C-II administration in two affected patients.
    Baggio G, Manzato E, Gabelli C, Fellin R, Martini S, Enzi GB, Verlato F, Baiocchi MR, Sprecher DL, Kashyap ML.
    J Clin Invest; 1986 Feb; 77(2):520-7. PubMed ID: 3944267
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  • 9. Missense mutation Leu72Pro located on the carboxyl terminal amphipathic helix of apolipoprotein C-II causes familial chylomicronemia syndrome.
    Lam CW, Yuen YP, Cheng WF, Chan YW, Tong SF.
    Clin Chim Acta; 2006 Feb; 364(1-2):256-9. PubMed ID: 16153625
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  • 10. [Apolipoprotein C-II deficiency].
    Inadera H.
    Nihon Rinsho; 1994 Dec; 52(12):3241-5. PubMed ID: 7853717
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  • 16. Ehlers-Danlos syndrome type VI results from a nonsense mutation and a splice site-mediated exon-skipping mutation in the lysyl hydroxylase gene.
    Yeowell HN, Walker LC.
    Proc Assoc Am Physicians; 1997 Jul; 109(4):383-96. PubMed ID: 9220536
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  • 18. A deletion mutation in the ApoC-II gene (ApoC-II Nijmegen) of a patient with a deficiency of apolipoprotein C-II.
    Fojo SS, Stalenhoef AF, Marr K, Gregg RE, Ross RS, Brewer HB.
    J Biol Chem; 1988 Dec 05; 263(34):17913-6. PubMed ID: 3192518
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  • 19. Two distinct novel splice site mutations in a compound heterozygous patient with protein S deficiency.
    Yamazaki T, Katsumi A, Okamoto Y, Takafuta T, Tsuzuki S, Kagami K, Sugiura I, Kojima T, Fujimura K, Saito H.
    Thromb Haemost; 1997 Jan 05; 77(1):14-20. PubMed ID: 9031442
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