[1]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT FUCOSIDOSIS ASP-65, AND VARIANT ARG-286.
DOI=10.1093/hmg/2.4.423; PubMed=8504303 [NCBI, ExPASy, EBI, Israel, Japan]
Seo H.-C.,
Willems P.J.,
Kretz K.A.,
Martin B.M.,
O'Brien J.S.;
"Fucosidosis: four new mutations and a new polymorphism.";
Hum. Mol. Genet. 2:423-429(1993).
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[2]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Neuroblastoma;
DOI=10.1016/S0304-3835(03)00085-5; PubMed=12880961 [NCBI, ExPASy, EBI, Israel, Japan]
Ohira M.,
Morohashi A.,
Nakamura Y.,
Isogai E.,
Furuya K.,
Hamano S.,
Machida T.,
Aoyama M.,
Fukumura M.,
Miyazaki K.,
Suzuki Y.,
Sugano S.,
Hirato J.,
Nakagawara A.;
"Neuroblastoma oligo-capping cDNA project: toward the understanding of the genesis and biology of neuroblastoma.";
Cancer Lett. 197:63-68(2003).
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Spleen;
DOI=10.1038/ng1285; PubMed=14702039 [NCBI, ExPASy, EBI, Israel, Japan]
Ota T.,
Suzuki Y.,
Nishikawa T.,
Otsuki T.,
Sugiyama T.,
Irie R.,
Wakamatsu A.,
Hayashi K.,
Sato H.,
Nagai K.,
Kimura K.,
Makita H.,
Sekine M.,
Obayashi M.,
Nishi T.,
Shibahara T.,
Tanaka T.,
Ishii S.,
Yamamoto J., ![]()
Saito K.,
Kawai Y.,
Isono Y.,
Nakamura Y.,
Nagahari K.,
Murakami K.,
Yasuda T.,
Iwayanagi T.,
Wagatsuma M.,
Shiratori A.,
Sudo H.,
Hosoiri T.,
Kaku Y.,
Kodaira H.,
Kondo H.,
Sugawara M.,
Takahashi M.,
Kanda K.,
Yokoi T.,
Furuya T.,
Kikkawa E.,
Omura Y.,
Abe K.,
Kamihara K.,
Katsuta N.,
Sato K.,
Tanikawa M.,
Yamazaki M.,
Ninomiya K.,
Ishibashi T.,
Yamashita H.,
Murakawa K.,
Fujimori K.,
Tanai H.,
Kimata M.,
Watanabe M.,
Hiraoka S.,
Chiba Y.,
Ishida S.,
Ono Y.,
Takiguchi S.,
Watanabe S.,
Yosida M.,
Hotuta T.,
Kusano J.,
Kanehori K.,
Takahashi-Fujii A.,
Hara H.,
Tanase T.-O.,
Nomura Y.,
Togiya S.,
Komai F.,
Hara R.,
Takeuchi K.,
Arita M.,
Imose N.,
Musashino K.,
Yuuki H.,
Oshima A.,
Sasaki N.,
Aotsuka S.,
Yoshikawa Y.,
Matsunawa H.,
Ichihara T.,
Shiohata N.,
Sano S.,
Moriya S.,
Momiyama H.,
Satoh N.,
Takami S.,
Terashima Y.,
Suzuki O.,
Nakagawa S.,
Senoh A.,
Mizoguchi H.,
Goto Y.,
Shimizu F.,
Wakebe H.,
Hishigaki H.,
Watanabe T.,
Sugiyama A.,
Takemoto M.,
Kawakami B.,
Yamazaki M.,
Watanabe K.,
Kumagai A.,
Itakura S.,
Fukuzumi Y.,
Fujimori Y.,
Komiyama M.,
Tashiro H.,
Tanigami A.,
Fujiwara T.,
Ono T.,
Yamada K.,
Fujii Y.,
Ozaki K.,
Hirao M.,
Ohmori Y.,
Kawabata A.,
Hikiji T.,
Kobatake N.,
Inagaki H.,
Ikema Y.,
Okamoto S.,
Okitani R.,
Kawakami T.,
Noguchi S.,
Itoh T.,
Shigeta K.,
Senba T.,
Matsumura K.,
Nakajima Y.,
Mizuno T.,
Morinaga M.,
Sasaki M.,
Togashi T.,
Oyama M.,
Hata H.,
Watanabe M.,
Komatsu T.,
Mizushima-Sugano J.,
Satoh T.,
Shirai Y.,
Takahashi Y.,
Nakagawa K.,
Okumura K.,
Nagase T.,
Nomura N.,
Kikuchi H.,
Masuho Y.,
Yamashita R.,
Nakai K.,
Yada T.,
Nakamura Y.,
Ohara O.,
Isogai T.,
Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human cDNAs.";
Nat. Genet. 36:40-45(2004).
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature04727; PubMed=16710414 [NCBI, ExPASy, EBI, Israel, Japan]
Gregory S.G.,
Barlow K.F.,
McLay K.E.,
Kaul R.,
Swarbreck D.,
Dunham A.,
Scott C.E.,
Howe K.L.,
Woodfine K.,
Spencer C.C.A.,
Jones M.C.,
Gillson C.,
Searle S.,
Zhou Y.,
Kokocinski F.,
McDonald L.,
Evans R.,
Phillips K.,
Atkinson A., ![]()
Cooper R.,
Jones C.,
Hall R.E.,
Andrews T.D.,
Lloyd C.,
Ainscough R.,
Almeida J.P.,
Ambrose K.D.,
Anderson F.,
Andrew R.W.,
Ashwell R.I.S.,
Aubin K.,
Babbage A.K.,
Bagguley C.L.,
Bailey J.,
Beasley H.,
Bethel G.,
Bird C.P.,
Bray-Allen S.,
Brown J.Y.,
Brown A.J.,
Buckley D.,
Burton J.,
Bye J.,
Carder C.,
Chapman J.C.,
Clark S.Y.,
Clarke G.,
Clee C.,
Cobley V.,
Collier R.E.,
Corby N.,
Coville G.J.,
Davies J.,
Deadman R.,
Dunn M.,
Earthrowl M.,
Ellington A.G.,
Errington H.,
Frankish A.,
Frankland J.,
French L.,
Garner P.,
Garnett J.,
Gay L.,
Ghori M.R.J.,
Gibson R.,
Gilby L.M.,
Gillett W.,
Glithero R.J.,
Grafham D.V.,
Griffiths C.,
Griffiths-Jones S.,
Grocock R.,
Hammond S.,
Harrison E.S.I.,
Hart E.,
Haugen E.,
Heath P.D.,
Holmes S.,
Holt K.,
Howden P.J.,
Hunt A.R.,
Hunt S.E.,
Hunter G.,
Isherwood J.,
James R.,
Johnson C.,
Johnson D.,
Joy A.,
Kay M.,
Kershaw J.K.,
Kibukawa M.,
Kimberley A.M.,
King A.,
Knights A.J.,
Lad H.,
Laird G.,
Lawlor S.,
Leongamornlert D.A.,
Lloyd D.M.,
Loveland J.,
Lovell J.,
Lush M.J.,
Lyne R.,
Martin S.,
Mashreghi-Mohammadi M.,
Matthews L.,
Matthews N.S.W.,
McLaren S.,
Milne S.,
Mistry S.,
Moore M.J.F.,
Nickerson T.,
O'Dell C.N.,
Oliver K.,
Palmeiri A.,
Palmer S.A.,
Parker A.,
Patel D.,
Pearce A.V.,
Peck A.I.,
Pelan S.,
Phelps K.,
Phillimore B.J.,
Plumb R.,
Rajan J.,
Raymond C.,
Rouse G.,
Saenphimmachak C.,
Sehra H.K.,
Sheridan E.,
Shownkeen R.,
Sims S.,
Skuce C.D.,
Smith M.,
Steward C.,
Subramanian S.,
Sycamore N.,
Tracey A.,
Tromans A.,
Van Helmond Z.,
Wall M.,
Wallis J.M.,
White S.,
Whitehead S.L.,
Wilkinson J.E.,
Willey D.L.,
Williams H.,
Wilming L.,
Wray P.W.,
Wu Z.,
Coulson A.,
Vaudin M.,
Sulston J.E.,
Durbin R.M.,
Hubbard T.,
Wooster R.,
Dunham I.,
Carter N.P.,
McVean G.,
Ross M.T.,
Harrow J.,
Olson M.V.,
Beck S.,
Rogers J.,
Bentley D.R.;
"The DNA sequence and biological annotation of human chromosome 1.";
Nature 441:315-321(2006).
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[5]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Skin;
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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[6]
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NUCLEOTIDE SEQUENCE [MRNA] OF 2-466, AND VARIANT SER-269.
DOI=10.1016/0006-291X(89)91739-7; PubMed=2803312 [NCBI, ExPASy, EBI, Israel, Japan]
Occhiodoro T.,
Beckmann K.R.,
Morris C.P.,
Hopwood J.J.;
"Human alpha-L-fucosidase: complete coding sequence from cDNA clones.";
Biochem. Biophys. Res. Commun. 164:439-445(1989).
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[7]
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NUCLEOTIDE SEQUENCE [MRNA] OF 3-92.
TISSUE=Placenta;
DOI=10.1007/BF01799583; PubMed=2174090 [NCBI, ExPASy, EBI, Israel, Japan]
Fukushima H.,
Nishimoto J.,
Okada S.;
"Sequencing and expression of a full-length cDNA for human alpha-L-fucosidase.";
J. Inherit. Metab. Dis. 13:761-765(1990).
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[8]
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NUCLEOTIDE SEQUENCE [MRNA] OF 75-427.
PubMed=2983333 [NCBI, ExPASy, EBI, Israel, Japan]
Fukushima H.,
de Wet J.R.,
O'Brien J.S.;
"Molecular cloning of a cDNA for human alpha-L-fucosidase.";
Proc. Natl. Acad. Sci. U.S.A. 82:1262-1265(1985).
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[9]
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NUCLEOTIDE SEQUENCE [MRNA] OF 75-426.
PubMed=6096099 [NCBI, ExPASy, EBI, Israel, Japan]
de Wet J.R.,
Fukushima H.,
Dewji N.N.,
Wilcox E.,
O'Brien J.S.,
Helinski D.R.;
"Chromogenic immunodetection of human serum albumin and alpha-L-fucosidase clones in a human hepatoma cDNA expression library.";
DNA 3:437-447(1984).
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[10]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 75-426, AND VARIANT SER-269.
PubMed=2894306 [NCBI, ExPASy, EBI, Israel, Japan]
O'Brien J.S.,
Willems P.J.,
Fukushima H.,
de Wet J.R.,
Darby J.K.,
Dicioccio R.A.,
Fowler M.L.,
Shows T.B.;
"Molecular biology of the alpha-6L-fucosidase gene and fucosidosis.";
Enzyme 38:45-53(1987).
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[11]
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STRUCTURE OF CARBOHYDRATES.
Beem E.P.,
Lisman J.J.W.,
van Steijn G.J.,
van der Wal C.J.,
Trippelvitz L.A.W.,
Overdijk B.,
van Halbeek H.,
Mutsaers J.H.G.M.,
Vliegenthart J.F.G.;
"Structural analysis of the carbohydrate moieties of alpha-L-fucosidase from human liver.";
Glycoconj. J. 4:33-42(1987).
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[12]
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REVIEW ON VARIANTS.
DOI=10.1038/sj.ejhg.5200272; PubMed=10094192 [NCBI, ExPASy, EBI, Israel, Japan]
Willems P.J.,
Seo H.-C.,
Coucke P.,
Tonlorenzi R.,
O'Brien J.S.;
"Spectrum of mutations in fucosidosis.";
Eur. J. Hum. Genet. 7:60-67(1999).
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[13]
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VARIANT ARG-286.
DOI=10.1016/0925-4439(93)90065-9; PubMed=8399358 [NCBI, ExPASy, EBI, Israel, Japan]
Yang M.,
Allen H.,
Dicioccio R.A.;
"Pedigree analysis of alpha-L-fucosidase gene mutations in a fucosidosis family.";
Biochim. Biophys. Acta 1182:245-249(1993).
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[14]
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VARIANT FUCOSIDOSIS LEU-68.
PubMed=7874128 [NCBI, ExPASy, EBI, Israel, Japan]
Seo H.-C.,
Yang M.,
Tonlorenzi R.,
Willems P.J.,
Kim A.H.,
Filocamo M.,
Gatti R.,
Dicioccio R.A.,
O'Brien J.S.;
"A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient.";
Hum. Mol. Genet. 3:2065-2066(1994).
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[15]
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VARIANT ARG-286.
PubMed=7815431 [NCBI, ExPASy, EBI, Israel, Japan]
Cragg H.,
Winchester B.,
Seo H.-C.,
O'Brien J.S.,
Swallow D.;
"Molecular basis of the common electrophoretic polymorphism (Fu1/Fu2) in human alpha-L-fucosidase.";
J. Med. Genet. 31:659-660(1994).
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[16]
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VARIANT FUCOSIDOSIS ARG-410.
DOI=10.1023/A:1005405222252; PubMed=9762612 [NCBI, ExPASy, EBI, Israel, Japan]
Fleming C.J.,
Sinclair D.U.,
White E.J.,
Winchester B.,
Whiteford M.L.,
Connor J.M.;
"A fucosidosis patient with relative longevity and a missense mutation in exon 7 of the alpha-fucosidase gene.";
J. Inherit. Metab. Dis. 21:688-689(1998).
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[17]
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VARIANTS SER-269 AND ARG-286.
DOI=10.1023/A:1020116220624; PubMed=12408193 [NCBI, ExPASy, EBI, Israel, Japan]
Ip P.,
Goh W.,
Chan K.W.,
Cheung P.T.;
"A novel FUCA1 mutation causing fucosidosis in a Chinese boy.";
J. Inherit. Metab. Dis. 25:415-416(2002).
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