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Analbuminemia produced by a novel splicing mutation.
Dolcini L, Caridi G, Dagnino M, Sala A, Gökçe S, Sökücü S, Campagnoli M, Galliano M, Minchiotti L. Dolcini L, et al. Among authors: campagnoli m. Clin Chem. 2007 Aug;53(8):1549-52. doi: 10.1373/clinchem.2007.089748. Clin Chem. 2007. PMID: 17644793
A novel splicing mutation causes an undescribed type of analbuminemia.
Campagnoli M, Rossi A, Palmqvist L, Flisberg A, Niklasson A, Minchotti L, Galliano M. Campagnoli M, et al. Biochim Biophys Acta. 2002 Jan 2;1586(1):43-9. doi: 10.1016/s0925-4439(01)00084-9. Biochim Biophys Acta. 2002. PMID: 11781148 Free article.
Analbuminemia Zonguldak: case report and mutational analysis.
Caridi G, Dagnino M, Dalgic B, Egritas O, Sancak B, Campagnoli M, Dolcini L, Galliano M, Minchiotti L. Caridi G, et al. Among authors: campagnoli m. Clin Biochem. 2008 Mar;41(4-5):288-91. doi: 10.1016/j.clinbiochem.2007.11.016. Epub 2007 Dec 5. Clin Biochem. 2008. PMID: 18154732
Analbuminemia in a Swedish male is caused by the Kayseri mutation (c228_229delAT).
Campagnoli M, Hansson P, Dolcini L, Caridi G, Dagnino M, Candiano G, Bruschi M, Palmqvist L, Galliano M, Minchiotti L. Campagnoli M, et al. Clin Chim Acta. 2008 Oct;396(1-2):89-92. doi: 10.1016/j.cca.2008.06.008. Epub 2008 Jun 12. Clin Chim Acta. 2008. PMID: 18602380
RESULTS: The analbuminemic trait of the proband was caused by a homozygous AT deletion at nucleotides c. 228-229, the 91st and 92nd bases of exon 3. This defect, previously identified as Kayseri mutation [M. Galliano, M. Campagnoli, A. Rossi, et al. Molecular …
RESULTS: The analbuminemic trait of the proband was caused by a homozygous AT deletion at nucleotides c. 228-229, the 91st and 92nd bases of …
111 results