[1]
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NUCLEOTIDE SEQUENCE [MRNA].
DOI=10.1006/bbrc.1994.1440; PubMed=8166692 [NCBI, ExPASy, EBI, Israel, Japan]
Nebes V.L.,
Schmidt M.C.;
"Human lysosomal alpha-mannosidase: isolation and nucleotide sequence of the full-length cDNA.";
Biochem. Biophys. Res. Commun. 200:239-245(1994).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA], PARTIAL PROTEIN SEQUENCE, AND VARIANT AM LEU-72.
TISSUE=Lung, and Skin;
DOI=10.1093/hmg/6.5.717; PubMed=9158146 [NCBI, ExPASy, EBI, Israel, Japan]
Nilssen O.,
Berg T.,
Riise H.M.F.,
Ramachandran U.,
Evjen G.,
Hansen G.M.,
Malm D.,
Tranebjaerg L.,
Tollersrud O.-K.;
"Alpha-mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings.";
Hum. Mol. Genet. 6:717-726(1997).
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[3]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DOI=10.1006/geno.1997.4668; PubMed=9192839 [NCBI, ExPASy, EBI, Israel, Japan]
Riise H.M.F.,
Berg T.,
Nilssen O.,
Romeo G.,
Tollersrud O.-K.,
Ceccherini I.;
"Genomic structure of the human lysosomal alpha-mannosidase gene (MANB).";
Genomics 42:200-207(1997).
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Placenta;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[5]
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NUCLEOTIDE SEQUENCE [MRNA] OF 9-1010.
TISSUE=Spleen;
DOI=10.1074/jbc.271.45.28348; PubMed=8910458 [NCBI, ExPASy, EBI, Israel, Japan]
Liao Y.-F.,
Lal A.,
Moremen K.W.;
"Cloning, expression, purification, and characterization of the human broad specificity lysosomal acid alpha-mannosidase.";
J. Biol. Chem. 271:28348-28358(1996).
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[6]
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PARTIAL PROTEIN SEQUENCE.
PubMed=7832746 [NCBI, ExPASy, EBI, Israel, Japan]
Emiliani C.,
Martino S.,
Stirling J.L.,
Maras B.,
Orlacchio A.;
"Partial sequence of the purified protein confirms the identity of cDNA coding for human lysosomal alpha-mannosidase B.";
Biochem. J. 305:363-366(1995).
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[7]
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GLYCOSYLATION AT ASN-930.
DOI=10.1038/nbt827; PubMed=12754519 [NCBI, ExPASy, EBI, Israel, Japan]
Zhang H.,
Li X.-J.,
Martin D.B.,
Aebersold R.;
"Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry.";
Nat. Biotechnol. 21:660-666(2003).
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[8]
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VARIANTS AM LEU-72; ARG-356 AND TRP-750.
DOI=10.1086/302048; PubMed=9758606 [NCBI, ExPASy, EBI, Israel, Japan]
Gotoda Y.,
Wakamatsu N.,
Kawai H.,
Nishida Y.,
Matsumoto T.;
"Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis.";
Am. J. Hum. Genet. 63:1015-1024(1998).
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[9]
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VARIANTS AM PRO-355; LYS-402; ARG-714 AND PRO-809, AND VARIANTS VAL-278; ILE-312; GLN-337 AND SER-413.
DOI=10.1086/302183; PubMed=9915946 [NCBI, ExPASy, EBI, Israel, Japan]
Berg T.,
Riise H.M.F.,
Hansen G.M.,
Malm D.,
Tranebjaerg L.,
Tollersrud O.-K.,
Nilssen O.;
"Spectrum of mutations in alpha-mannosidosis.";
Am. J. Hum. Genet. 64:77-88(1999).
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[10]
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VARIANT AM TYR-453.
PubMed=12718372 [NCBI, ExPASy, EBI, Israel, Japan]
Oelmez A.,
Nilssen O.,
Coskun T.,
Klenow H.;
"Alpha-mannosidosis and mutational analysis in a Turkish patient.";
Turk. J. Pediatr. 45:46-50(2003).
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[11]
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VARIANTS AM LEU-200 AND ASP-801, AND CHARACTERIZATION OF VARIANTS AM LEU-200 AND ASP-801.
DOI=10.1002/humu.9310; PubMed=15712269 [NCBI, ExPASy, EBI, Israel, Japan]
Sbaragli M.,
Bibi L.,
Pittis M.G.,
Balducci C.,
Heikinheimo P.,
Ricci R.,
Antuzzi D.,
Parini R.,
Spaccini L.,
Bembi B.,
Beccari T.;
"Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis.";
Hum. Mutat. 25:320-320(2005).
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