[1]
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NUCLEOTIDE SEQUENCE [MRNA], VARIANT PRO-649, AND ALTERNATIVE SPLICING.
TISSUE=Placenta;
PubMed=3468507 [NCBI, ExPASy, EBI, Israel, Japan]
Oshima A.,
Kyle J.W.,
Miller R.D.,
Hoffmann J.W.,
Powell P.P.,
Grubb J.H.,
Sly W.S.,
Tropak M.,
Guise K.S.,
Gravel R.A.;
"Cloning, sequencing, and expression of cDNA for human beta-glucuronidase.";
Proc. Natl. Acad. Sci. U.S.A. 84:685-689(1987).
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[2]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Totoki Y.,
Toyoda A.,
Takeda T.,
Sakaki Y.,
Tanaka A.,
Yokoyama S.;
Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature01782; PubMed=12853948 [NCBI, ExPASy, EBI, Israel, Japan]
Hillier L.W.,
Fulton R.S.,
Fulton L.A.,
Graves T.A.,
Pepin K.H.,
Wagner-McPherson C.,
Layman D.,
Maas J.,
Jaeger S.,
Walker R.,
Wylie K.,
Sekhon M.,
Becker M.C.,
O'Laughlin M.D.,
Schaller M.E.,
Fewell G.A.,
Delehaunty K.D.,
Miner T.L.,
Nash W.E., ![]()
Cordes M.,
Du H.,
Sun H.,
Edwards J.,
Bradshaw-Cordum H.,
Ali J.,
Andrews S.,
Isak A.,
Vanbrunt A.,
Nguyen C.,
Du F.,
Lamar B.,
Courtney L.,
Kalicki J.,
Ozersky P.,
Bielicki L.,
Scott K.,
Holmes A.,
Harkins R.,
Harris A.,
Strong C.M.,
Hou S.,
Tomlinson C.,
Dauphin-Kohlberg S.,
Kozlowicz-Reilly A.,
Leonard S.,
Rohlfing T.,
Rock S.M.,
Tin-Wollam A.-M.,
Abbott A.,
Minx P.,
Maupin R.,
Strowmatt C.,
Latreille P.,
Miller N.,
Johnson D.,
Murray J.,
Woessner J.P.,
Wendl M.C.,
Yang S.-P.,
Schultz B.R.,
Wallis J.W.,
Spieth J.,
Bieri T.A.,
Nelson J.O.,
Berkowicz N.,
Wohldmann P.E.,
Cook L.L.,
Hickenbotham M.T.,
Eldred J.,
Williams D.,
Bedell J.A.,
Mardis E.R.,
Clifton S.W.,
Chissoe S.L.,
Marra M.A.,
Raymond C.,
Haugen E.,
Gillett W.,
Zhou Y.,
James R.,
Phelps K.,
Iadanoto S.,
Bubb K.,
Simms E.,
Levy R.,
Clendenning J.,
Kaul R.,
Kent W.J.,
Furey T.S.,
Baertsch R.A.,
Brent M.R.,
Keibler E.,
Flicek P.,
Bork P.,
Suyama M.,
Bailey J.A.,
Portnoy M.E.,
Torrents D.,
Chinwalla A.T.,
Gish W.R.,
Eddy S.R.,
McPherson J.D.,
Olson M.V.,
Eichler E.E.,
Green E.D.,
Waterston R.H.,
Wilson R.K.;
"The DNA sequence of human chromosome 7.";
Nature 424:157-164(2003).
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1126/science.1083423; PubMed=12690205 [NCBI, ExPASy, EBI, Israel, Japan]
Scherer S.W.,
Cheung J.,
MacDonald J.R.,
Osborne L.R.,
Nakabayashi K.,
Herbrick J.-A.,
Carson A.R.,
Parker-Katiraee L.,
Skaug J.,
Khaja R.,
Zhang J.,
Hudek A.K.,
Li M.,
Haddad M.,
Duggan G.E.,
Fernandez B.A.,
Kanematsu E.,
Gentles S.,
Christopoulos C.C., ![]()
Choufani S.,
Kwasnicka D.,
Zheng X.H.,
Lai Z.,
Nusskern D.R.,
Zhang Q.,
Gu Z.,
Lu F.,
Zeesman S.,
Nowaczyk M.J.,
Teshima I.,
Chitayat D.,
Shuman C.,
Weksberg R.,
Zackai E.H.,
Grebe T.A.,
Cox S.R.,
Kirkpatrick S.J.,
Rahman N.,
Friedman J.M.,
Heng H.H.Q.,
Pelicci P.G.,
Lo-Coco F.,
Belloni E.,
Shaffer L.G.,
Pober B.,
Morton C.C.,
Gusella J.F.,
Bruns G.A.P.,
Korf B.R.,
Quade B.J.,
Ligon A.H.,
Ferguson H.,
Higgins A.W.,
Leach N.T.,
Herrick S.R.,
Lemyre E.,
Farra C.G.,
Kim H.-G.,
Summers A.M.,
Gripp K.W.,
Roberts W.,
Szatmari P.,
Winsor E.J.T.,
Grzeschik K.-H.,
Teebi A.,
Minassian B.A.,
Kere J.,
Armengol L.,
Pujana M.A.,
Estivill X.,
Wilson M.D.,
Koop B.F.,
Tosi S.,
Moore G.E.,
Boright A.P.,
Zlotorynski E.,
Kerem B.,
Kroisel P.M.,
Petek E.,
Oscier D.G.,
Mould S.J.,
Doehner H.,
Doehner K.,
Rommens J.M.,
Vincent J.B.,
Venter J.C.,
Li P.W.,
Mural R.J.,
Adams M.D.,
Tsui L.-C.;
"Human chromosome 7: DNA sequence and biology.";
Science 300:767-772(2003).
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[5]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J.,
Istrail S.,
Sutton G.G.,
Florea L.,
Halpern A.L.,
Mobarry C.M.,
Lippert R.,
Walenz B.,
Shatkay H.,
Dew I.,
Miller J.R.,
Flanigan M.J.,
Edwards N.J.,
Bolanos R.,
Fasulo D.,
Halldorsson B.V.,
Hannenhalli S.,
Turner R.,
Yooseph S., ![]()
Lu F.,
Nusskern D.R.,
Shue B.C.,
Zheng X.H.,
Zhong F.,
Delcher A.L.,
Huson D.H.,
Kravitz S.A.,
Mouchard L.,
Reinert K.,
Remington K.A.,
Clark A.G.,
Waterman M.S.,
Eichler E.E.,
Adams M.D.,
Hunkapiller M.W.,
Myers E.W.,
Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
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[6]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Colon;
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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[7]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-70.
DOI=10.1016/0888-7543(91)90192-H; PubMed=1916806 [NCBI, ExPASy, EBI, Israel, Japan]
Shipley J.M.,
Miller R.D.,
Wu B.M.,
Grubb J.H.,
Christensen S.G.,
Kyle J.W.,
Sly W.S.;
"Analysis of the 5' flanking region of the human beta-glucuronidase gene.";
Genomics 10:1009-1018(1991).
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[8]
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PROTEIN SEQUENCE OF 23-32 AND 160-175.
TISSUE=Placenta;
PubMed=1311180 [NCBI, ExPASy, EBI, Israel, Japan]
Tanaka J.,
Gasa S.,
Sakurada K.,
Miyazaki T.,
Kasai M.,
Makita A.;
"Characterization of the subunits and sugar moiety of human placental and leukemic beta-glucuronidase.";
Biol. Chem. Hoppe-Seyler 373:57-62(1992).
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[9]
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NUCLEOTIDE SEQUENCE [MRNA] OF 520-585.
TISSUE=Fibroblast;
DOI=10.1016/0378-1119(85)90300-2; PubMed=3924735 [NCBI, ExPASy, EBI, Israel, Japan]
Guise K.S.,
Korneluk R.G.,
Waye J.,
Lamhonwah A.-M.,
Quan F.,
Palmer R.,
Ganschow R.E.,
Sly W.S.,
Gravel R.A.;
"Isolation and expression in Escherichia coli of a cDNA clone encoding human beta-glucuronidase.";
Gene 34:105-110(1985).
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[10]
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INHIBITION BY L-ASPARTIC ACID.
DOI=10.1203/00006450-200110000-00007; PubMed=11568288 [NCBI, ExPASy, EBI, Israel, Japan]
Kreamer B.L.,
Siegel F.L.,
Gourley G.R.;
"A novel inhibitor of beta-glucuronidase: L-aspartic acid.";
Pediatr. Res. 50:460-466(2001).
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[11]
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GLYCOSYLATION AT ASN-272.
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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[12]
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GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-272, 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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[13]
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X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS).
DOI=10.1038/nsb0496-375; PubMed=8599764 [NCBI, ExPASy, EBI, Israel, Japan]
Jain S.,
Drendel W.B.,
Chen Z.W.,
Mathews F.S.,
Sly W.S.,
Grubb J.H.;
"Structure of human beta-glucuronidase reveals candidate lysosomal targeting and active-site motifs.";
Nat. Struct. Biol. 3:375-381(1996).
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[14]
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VARIANT MPS-7 TRP-216.
DOI=10.1002/humu.1380020604; PubMed=8111412 [NCBI, ExPASy, EBI, Israel, Japan]
Vervoort R.,
Lissens W.,
Liebaers I.;
"Molecular analysis of a patient with hydrops fetalis caused by beta-glucuronidase deficiency, and evidence for additional pseudogenes.";
Hum. Mutat. 2:443-445(1993).
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[15]
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VARIANTS MPS-7 VAL-354 AND TRP-611.
DOI=10.1002/humu.1380020605; PubMed=8111413 [NCBI, ExPASy, EBI, Israel, Japan]
Wu B.M.,
Sly W.S.;
"Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII.";
Hum. Mutat. 2:446-457(1993).
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[16]
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VARIANTS MPS-7 CYS-382 AND VAL-619.
PubMed=1702266 [NCBI, ExPASy, EBI, Israel, Japan]
Tomatsu S.,
Fukuda S.,
Sukegawa K.,
Ikedo Y.,
Yamada S.,
Yamada Y.,
Sasaki T.,
Okamoto H.,
Kuwahara T.,
Yamaguchi S.,
Kiman T.,
Shintaku H.,
Isshiki G.,
Orii T.;
"Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity.";
Am. J. Hum. Genet. 48:89-96(1991).
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[17]
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VARIANT MPS-7 CYS-627.
PubMed=7680524 [NCBI, ExPASy, EBI, Israel, Japan]
Shipley J.M.,
Klinkenberg M.,
Wu B.M.,
Bachinsky D.R.,
Grubb J.H.,
Sly W.S.;
"Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes.";
Am. J. Hum. Genet. 52:517-526(1993).
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[18]
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VARIANT MPS-7 PHE-176, AND VARIANT PRO-649.
PubMed=8089138 [NCBI, ExPASy, EBI, Israel, Japan]
Wu B.M.,
Tomatsu S.,
Fukuda S.,
Sukegawa K.,
Orii T.,
Sly W.S.;
"Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings.";
J. Biol. Chem. 269:23681-23688(1994).
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[19]
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VARIANT MPS-7 PHE-176, VARIANT ASN-152, AND CHARACTERIZATION OF VARIANT ASN-152.
PubMed=7573038 [NCBI, ExPASy, EBI, Israel, Japan]
Vervoort R.,
Islam M.R.,
Sly W.,
Chabas A.,
Wevers R.,
de Jong J.,
Liebaers I.,
Lissens W.;
"A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene.";
Am. J. Hum. Genet. 57:798-804(1995).
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[20]
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VARIANTS MPS-7 SER-148 AND CYS-495.
DOI=10.1093/hmg/4.4.651; PubMed=7633414 [NCBI, ExPASy, EBI, Israel, Japan]
Yamada S.,
Tomatsu S.,
Sly W.S.,
Islam R.,
Wenger D.A.,
Fukuda S.,
Sukegawa K.,
Orii T.;
"Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site.";
Hum. Mol. Genet. 4:651-655(1995).
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[21]
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VARIANTS MPS-7 ARG-136; LYS-150; PHE-176; TRP-216; CYS-320; SER-320; TYR-351; CYS-374; CYS-382; HIS-382; PRO-435; TRP-477; CYS-508; ASP-572; ASN-606 AND CYS-627.
PubMed=8644704 [NCBI, ExPASy, EBI, Israel, Japan]
Vervoort R.,
Islam M.R.,
Sly W.S.,
Zabot M.T.,
Kleijer W.J.,
Chabas A.,
Fensom A.,
Young E.P.,
Liebaers I.,
Lissens W.;
"Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.";
Am. J. Hum. Genet. 58:457-471(1996).
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[22]
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VARIANTS MPS-7 SER-408 AND LEU-415.
DOI=10.1007/s004390050207; PubMed=8707294 [NCBI, ExPASy, EBI, Israel, Japan]
Islam M.R.,
Vervoort R.,
Lissens W.,
Hoo J.J.,
Valentino L.A.,
Sly W.S.;
"beta-Glucuronidase P408S, P415L mutations: evidence that both mutations combine to produce an MPS VII allele in certain Mexican patients.";
Hum. Genet. 98:281-284(1996).
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[23]
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VARIANT MPS-7 PHE-52, AND CHARACTERIZATION OF VARIANT MPS-7 PHE-52.
DOI=10.1007/s004390050389; PubMed=9099834 [NCBI, ExPASy, EBI, Israel, Japan]
Vervoort R.,
Buist N.R.,
Kleijer W.J.,
Wevers R.,
Fryns J.P.,
Liebaers I.,
Lissens W.;
"Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region.";
Hum. Genet. 99:462-468(1997).
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[24]
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VARIANT ASN-152, AND VARIANTS MPS-7 GLY-38 AND HIS-626.
DOI=10.1007/s004390050656; PubMed=9490302 [NCBI, ExPASy, EBI, Israel, Japan]
Vervoort R.,
Gitzelmann R.,
Bosshard N.,
Maire I.,
Liebaers I.,
Lissens W.;
"Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote.";
Hum. Genet. 102:69-78(1998).
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[25]
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VARIANT MPS-7 PHE-176.
DOI=10.1034/j.1399-0004.2003.00119.x; PubMed=12859417 [NCBI, ExPASy, EBI, Israel, Japan]
Schwartz I.,
Silva L.R.,
Leistner S.,
Todeschini L.A.,
Burin M.G.,
Pina-Neto J.M.,
Islam R.M.,
Shah G.N.,
Sly W.S.,
Giugliani R.;
"Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family.";
Clin. Genet. 64:172-175(2003).
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[26]
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VARIANTS MPS-7 ASN-350 AND LEU-577, AND CHARACTERIZATION OF VARIANT MPS-7 ASN-350 LEU-577.
DOI=10.1007/s00439-002-0849-5; PubMed=12522561 [NCBI, ExPASy, EBI, Israel, Japan]
Storch S.,
Wittenstein B.,
Islam R.,
Ullrich K.,
Sly W.S.,
Braulke T.;
"Mutational analysis in longest known survivor of mucopolysaccharidosis type VII.";
Hum. Genet. 112:190-194(2003).
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