[1]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A), ALTERNATIVE SPLICING, TISSUE SPECIFICITY, AND VARIANTS HFE2A ASN-222 AND VAL-320.
TISSUE=Liver;
DOI=10.1038/ng1274; PubMed=14647275 [NCBI, ExPASy, EBI, Israel, Japan]
Papanikolaou G.,
Samuels M.E.,
Ludwig E.H.,
MacDonald M.L.E.,
Franchini P.L.,
Dube M.-P.,
Andres L.,
MacFarlane J.,
Sakellaropoulos N.,
Politou M.,
Nemeth E.,
Thompson J.,
Risler J.K.,
Zaborowska C.,
Babakaiff R.,
Radomski C.C.,
Pape T.D.,
Davidas O.,
Christakis J., ![]()
Brissot P.,
Lockitch G.,
Ganz T.,
Hayden M.R.,
Goldberg Y.P.;
"Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.";
Nat. Genet. 36:77-82(2004).
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[2]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS A AND B).
TISSUE=Liver, and Skeletal muscle;
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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[3]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Livingston R.J.,
Rieder M.J.,
Shaffer T.,
Bertucci C.,
Baier C.N.,
Rajkumar N.,
Willa H.T.,
Daniels M.,
Downing T.K.,
Stanaway I.B.,
Nguyen C.P.,
Gildersleeve H.,
Cassidy C.M.,
Johnson E.J.,
Swanson J.E.,
McFarland I.,
Yool B.,
Park C.,
Nickerson D.A.;
"NIEHS-SNPs, environmental genome project, NIEHS ES15478, Department of Genome Sciences, Seattle, WA (URL: http://egp.gs.washington.edu).";
Submitted (NOV-2005) to the EMBL/GenBank/DDBJ databases.
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS B AND C).
TISSUE=PNS, and Skeletal muscle;
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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VARIANTS HFE2A PRO-85; ARG-99; ASP-168; SER-170; GLU-172; CYS-191; ARG-205; VAL-250; TRP-288 AND VAL-320.
DOI=10.1182/blood-2004-01-0192; PubMed=14982873 [NCBI, ExPASy, EBI, Israel, Japan]
Lanzara C.,
Roetto A.,
Daraio F.,
Rivard S.,
Ficarella R.,
Simard H.,
Cox T.M.,
Cazzola M.,
Piperno A.,
Gimenez-Roqueplo A.P.,
Grammatico P.,
Volinia S.,
Gasparini P.,
Camaschella C.;
"Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.";
Blood 103:4317-4321(2004).
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[6]
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VARIANTS HFE2A ARG-80; PRO-101; ASN-222 AND VAL-320.
DOI=10.1182/blood-2004-01-0072; PubMed=14982867 [NCBI, ExPASy, EBI, Israel, Japan]
Lee P.L.,
Beutler E.,
Rao S.V.,
Barton J.C.;
"Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin.";
Blood 103:4669-4671(2004).
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[7]
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VARIANTS HFE2A VAL-320 AND TRP-321.
DOI=10.1111/j.1365-2141.2004.05165.x; PubMed=15461631 [NCBI, ExPASy, EBI, Israel, Japan]
Lee P.L.,
Barton J.C.,
Brandhagen D.,
Beutler E.;
"Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis.";
Br. J. Haematol. 127:224-229(2004).
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