[1]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Liver;
PubMed=2954545 [NCBI, ExPASy, EBI, Israel, Japan]
Catterall C.F.,
Lyons A.,
Sim R.M.,
Day A.J.,
Harris T.J.R.;
"Characterization of primary amino acid sequence of human complement control protein factor I from an analysis of cDNA clones.";
Biochem. J. 242:849-856(1987).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA].
PubMed=2956252 [NCBI, ExPASy, EBI, Israel, Japan]
Goldberger G.,
Bruns G.A.P.,
Rits M.,
Edge M.D.,
Kwiatkowski D.J.;
"Human complement factor I: analysis of cDNA-derived primary structure and assignment of its gene to chromosome 4.";
J. Biol. Chem. 262:10065-10071(1987).
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[3]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-18.
TISSUE=Liver;
DOI=10.1016/S0378-1119(97)00632-X; PubMed=9479036 [NCBI, ExPASy, EBI, Israel, Japan]
Minta J.O.,
Fung M.,
Turner S.,
Eren R.,
Zemach L.,
Rits M.,
Goldberger G.;
"Cloning and characterization of the promoter for the human complement factor I (C3b/C4b inactivator) gene.";
Gene 208:17-24(1998).
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[4]
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PROTEIN SEQUENCE OF 258-269.
DOI=10.1016/0014-5793(95)00916-W; PubMed=7672128 [NCBI, ExPASy, EBI, Israel, Japan]
Ullman C.G.,
Haris P.I.,
Smith K.F.,
Sim R.B.,
Emery V.C.,
Perkins S.J.;
"Beta-sheet secondary structure of an LDL receptor domain from complement factor I by consensus structure predictions and spectroscopy.";
FEBS Lett. 371:199-203(1995).
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[5]
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GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-464, AND MASS SPECTROMETRY.
TISSUE=Plasma;
DOI=10.1002/pmic.200300556; PubMed=14760718 [NCBI, ExPASy, EBI, Israel, Japan]
Bunkenborg J.,
Pilch B.J.,
Podtelejnikov A.V.,
Wisniewski J.R.;
"Screening for N-glycosylated proteins by liquid chromatography mass spectrometry.";
Proteomics 4:454-465(2004).
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[6]
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GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-70; ASN-103; ASN-177; ASN-464 AND ASN-536, AND MASS SPECTROMETRY.
TISSUE=Plasma;
DOI=10.1021/pr0502065; PubMed=16335952 [NCBI, ExPASy, EBI, Israel, Japan]
Liu T.,
Qian W.-J.,
Gritsenko M.A.,
Camp D.G. II,
Monroe M.E.,
Moore R.J.,
Smith R.D.;
"Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.";
J. Proteome Res. 4:2070-2080(2005).
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[7]
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VARIANT CFI DEFICIENCY LEU-418.
PubMed=8613545 [NCBI, ExPASy, EBI, Israel, Japan]
Vyse T.J.,
Morley B.J.,
Bartok I.,
Theodoridis E.L.,
Davies K.A.,
Webster A.D.B.,
Walport M.J.;
"The molecular basis of hereditary complement factor I deficiency.";
J. Clin. Invest. 97:925-933(1996).
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[8]
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INVOLVEMENT IN CFI DEFICIENCY.
DOI=10.1046/j.1365-2249.2003.02077.x; PubMed=12562389 [NCBI, ExPASy, EBI, Israel, Japan]
Baracho G.V.,
Nudelman V.,
Isaac L.;
"Molecular characterization of homozygous hereditary factor I deficiency.";
Clin. Exp. Immunol. 131:280-286(2003).
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[9]
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VARIANT VAL-524.
DOI=10.1136/jmg.2004.019083; PubMed=15173250 [NCBI, ExPASy, EBI, Israel, Japan]
Fremeaux-Bacchi V.,
Dragon-Durey M.-A.,
Blouin J.,
Vigneau C.,
Kuypers D.,
Boudailliez B.,
Loirat C.,
Rondeau E.,
Fridman W.H.;
"Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome.";
J. Med. Genet. 41:E84-E84(2004).
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[10]
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VARIANT CFI DEFICIENCY ASP-243.
DOI=10.1136/jmg.2006.045328; PubMed=17018561 [NCBI, ExPASy, EBI, Israel, Japan]
Servais A.,
Fremeaux-Bacchi V.,
Lequintrec M.,
Salomon R.,
Blouin J.,
Knebelmann B.,
Gruenfeld J.-P.,
Lesavre P.,
Noeel L.-H.,
Fakhouri F.;
"Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome.";
J. Med. Genet. 44:193-199(2007).
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[11]
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VARIANT THR-340.
DOI=10.1007/s00467-006-0320-2; PubMed=17106690 [NCBI, ExPASy, EBI, Israel, Japan]
Geelen J.,
van den Dries K.,
Roos A.,
van de Kar N.,
de Kat Angelino C.,
Klasen I.,
Monnens L.,
van den Heuvel L.;
"A missense mutation in factor I (IF) predisposes to atypical haemolytic uraemic syndrome.";
Pediatr. Nephrol. 22:371-375(2007).
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