[1]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DOI=10.1038/11976; PubMed=10431248 [NCBI, ExPASy, EBI, Israel, Japan]
Gedeon A.K.,
Colley A.,
Jamieson R.,
Thompson E.M.,
Rogers J.,
Sillence D.,
Tiller G.E.,
Mulley J.C.,
Gecz J.;
"Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.";
Nat. Genet. 22:400-404(1999).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, AND INTERACTION WITH MBP1.
DOI=10.1128/MCB.21.2.655-662.2001; PubMed=11134351 [NCBI, ExPASy, EBI, Israel, Japan]
Ghosh A.K.,
Majumder M.,
Steele R.,
White R.A.,
Ray R.B.;
"A novel 16-kilodalton cellular protein physically interacts with and antagonizes the functional activity of c-myc promoter-binding protein 1.";
Mol. Cell. Biol. 21:655-662(2001).
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[3]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Hu G.;
"Human cDNA complete cds homolog to yeast protein P38334.";
Submitted (APR-1998) to the EMBL/GenBank/DDBJ databases.
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature02399; PubMed=15057824 [NCBI, ExPASy, EBI, Israel, Japan]
Grimwood J.,
Gordon L.A.,
Olsen A.S.,
Terry A.,
Schmutz J.,
Lamerdin J.E.,
Hellsten U.,
Goodstein D.,
Couronne O.,
Tran-Gyamfi M.,
Aerts A.,
Altherr M.,
Ashworth L.,
Bajorek E.,
Black S.,
Branscomb E.,
Caenepeel S.,
Carrano A.V.,
Caoile C., ![]()
Chan Y.M.,
Christensen M.,
Cleland C.A.,
Copeland A.,
Dalin E.,
Dehal P.,
Denys M.,
Detter J.C.,
Escobar J.,
Flowers D.,
Fotopulos D.,
Garcia C.,
Georgescu A.M.,
Glavina T.,
Gomez M.,
Gonzales E.,
Groza M.,
Hammon N.,
Hawkins T.,
Haydu L.,
Ho I.,
Huang W.,
Israni S.,
Jett J.,
Kadner K.,
Kimball H.,
Kobayashi A.,
Larionov V.,
Leem S.-H.,
Lopez F.,
Lou Y.,
Lowry S.,
Malfatti S.,
Martinez D.,
McCready P.M.,
Medina C.,
Morgan J.,
Nelson K.,
Nolan M.,
Ovcharenko I.,
Pitluck S.,
Pollard M.,
Popkie A.P.,
Predki P.,
Quan G.,
Ramirez L.,
Rash S.,
Retterer J.,
Rodriguez A.,
Rogers S.,
Salamov A.,
Salazar A.,
She X.,
Smith D.,
Slezak T.,
Solovyev V.,
Thayer N.,
Tice H.,
Tsai M.,
Ustaszewska A.,
Vo N.,
Wagner M.,
Wheeler J.,
Wu K.,
Xie G.,
Yang J.,
Dubchak I.,
Furey T.S.,
DeJong P.,
Dickson M.,
Gordon D.,
Eichler E.E.,
Pennacchio L.A.,
Richardson P.,
Stubbs L.,
Rokhsar D.S.,
Myers R.M.,
Rubin E.M.,
Lucas S.M.;
"The DNA sequence and biology of human chromosome 19.";
Nature 428:529-535(2004).
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[5]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature03440; PubMed=15772651 [NCBI, ExPASy, EBI, Israel, Japan]
Ross M.T.,
Grafham D.V.,
Coffey A.J.,
Scherer S.,
McLay K.,
Muzny D.,
Platzer M.,
Howell G.R.,
Burrows C.,
Bird C.P.,
Frankish A.,
Lovell F.L.,
Howe K.L.,
Ashurst J.L.,
Fulton R.S.,
Sudbrak R.,
Wen G.,
Jones M.C.,
Hurles M.E., ![]()
Andrews T.D.,
Scott C.E.,
Searle S.,
Ramser J.,
Whittaker A.,
Deadman R.,
Carter N.P.,
Hunt S.E.,
Chen R.,
Cree A.,
Gunaratne P.,
Havlak P.,
Hodgson A.,
Metzker M.L.,
Richards S.,
Scott G.,
Steffen D.,
Sodergren E.,
Wheeler D.A.,
Worley K.C.,
Ainscough R.,
Ambrose K.D.,
Ansari-Lari M.A.,
Aradhya S.,
Ashwell R.I.,
Babbage A.K.,
Bagguley C.L.,
Ballabio A.,
Banerjee R.,
Barker G.E.,
Barlow K.F.,
Barrett I.P.,
Bates K.N.,
Beare D.M.,
Beasley H.,
Beasley O.,
Beck A.,
Bethel G.,
Blechschmidt K.,
Brady N.,
Bray-Allen S.,
Bridgeman A.M.,
Brown A.J.,
Brown M.J.,
Bonnin D.,
Bruford E.A.,
Buhay C.,
Burch P.,
Burford D.,
Burgess J.,
Burrill W.,
Burton J.,
Bye J.M.,
Carder C.,
Carrel L.,
Chako J.,
Chapman J.C.,
Chavez D.,
Chen E.,
Chen G.,
Chen Y.,
Chen Z.,
Chinault C.,
Ciccodicola A.,
Clark S.Y.,
Clarke G.,
Clee C.M.,
Clegg S.,
Clerc-Blankenburg K.,
Clifford K.,
Cobley V.,
Cole C.G.,
Conquer J.S.,
Corby N.,
Connor R.E.,
David R.,
Davies J.,
Davis C.,
Davis J.,
Delgado O.,
Deshazo D.,
Dhami P.,
Ding Y.,
Dinh H.,
Dodsworth S.,
Draper H.,
Dugan-Rocha S.,
Dunham A.,
Dunn M.,
Durbin K.J.,
Dutta I.,
Eades T.,
Ellwood M.,
Emery-Cohen A.,
Errington H.,
Evans K.L.,
Faulkner L.,
Francis F.,
Frankland J.,
Fraser A.E.,
Galgoczy P.,
Gilbert J.,
Gill R.,
Gloeckner G.,
Gregory S.G.,
Gribble S.,
Griffiths C.,
Grocock R.,
Gu Y.,
Gwilliam R.,
Hamilton C.,
Hart E.A.,
Hawes A.,
Heath P.D.,
Heitmann K.,
Hennig S.,
Hernandez J.,
Hinzmann B.,
Ho S.,
Hoffs M.,
Howden P.J.,
Huckle E.J.,
Hume J.,
Hunt P.J.,
Hunt A.R.,
Isherwood J.,
Jacob L.,
Johnson D.,
Jones S.,
de Jong P.J.,
Joseph S.S.,
Keenan S.,
Kelly S.,
Kershaw J.K.,
Khan Z.,
Kioschis P.,
Klages S.,
Knights A.J.,
Kosiura A.,
Kovar-Smith C.,
Laird G.K.,
Langford C.,
Lawlor S.,
Leversha M.,
Lewis L.,
Liu W.,
Lloyd C.,
Lloyd D.M.,
Loulseged H.,
Loveland J.E.,
Lovell J.D.,
Lozado R.,
Lu J.,
Lyne R.,
Ma J.,
Maheshwari M.,
Matthews L.H.,
McDowall J.,
McLaren S.,
McMurray A.,
Meidl P.,
Meitinger T.,
Milne S.,
Miner G.,
Mistry S.L.,
Morgan M.,
Morris S.,
Mueller I.,
Mullikin J.C.,
Nguyen N.,
Nordsiek G.,
Nyakatura G.,
O'dell C.N.,
Okwuonu G.,
Palmer S.,
Pandian R.,
Parker D.,
Parrish J.,
Pasternak S.,
Patel D.,
Pearce A.V.,
Pearson D.M.,
Pelan S.E.,
Perez L.,
Porter K.M.,
Ramsey Y.,
Reichwald K.,
Rhodes S.,
Ridler K.A.,
Schlessinger D.,
Schueler M.G.,
Sehra H.K.,
Shaw-Smith C.,
Shen H.,
Sheridan E.M.,
Shownkeen R.,
Skuce C.D.,
Smith M.L.,
Sotheran E.C.,
Steingruber H.E.,
Steward C.A.,
Storey R.,
Swann R.M.,
Swarbreck D.,
Tabor P.E.,
Taudien S.,
Taylor T.,
Teague B.,
Thomas K.,
Thorpe A.,
Timms K.,
Tracey A.,
Trevanion S.,
Tromans A.C.,
d'Urso M.,
Verduzco D.,
Villasana D.,
Waldron L.,
Wall M.,
Wang Q.,
Warren J.,
Warry G.L.,
Wei X.,
West A.,
Whitehead S.L.,
Whiteley M.N.,
Wilkinson J.E.,
Willey D.L.,
Williams G.,
Williams L.,
Williamson A.,
Williamson H.,
Wilming L.,
Woodmansey R.L.,
Wray P.W.,
Yen J.,
Zhang J.,
Zhou J.,
Zoghbi H.,
Zorilla S.,
Buck D.,
Reinhardt R.,
Poustka A.,
Rosenthal A.,
Lehrach H.,
Meindl A.,
Minx P.J.,
Hillier L.W.,
Willard H.F.,
Wilson R.K.,
Waterston R.H.,
Rice C.M.,
Vaudin M.,
Coulson A.,
Nelson D.L.,
Weinstock G.,
Sulston J.E.,
Durbin R.M.,
Hubbard T.,
Gibbs R.A.,
Beck S.,
Rogers J.,
Bentley D.R.;
"The DNA sequence of the human X chromosome.";
Nature 434:325-337(2005).
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[6]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Brain, Lung, Ovary, and Prostate;
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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GENOMIC ORGANIZATION, ALTERNATIVE SPLICING, AND SUBCELLULAR LOCATION.
DOI=10.1006/geno.2000.6326; PubMed=11031107 [NCBI, ExPASy, EBI, Israel, Japan]
Gecz J.,
Hillman M.A.,
Gedeon A.K.,
Cox T.C.,
Baker E.,
Mulley J.C.;
"Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda.";
Genomics 69:242-251(2000).
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[8]
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IDENTIFICATION IN TRAPP COMPLEX.
DOI=10.1038/415141a; PubMed=11805826 [NCBI, ExPASy, EBI, Israel, Japan]
Gavin A.-C.,
Boesche M.,
Krause R.,
Grandi P.,
Marzioch M.,
Bauer A.,
Schultz J.,
Rick J.M.,
Michon A.-M.,
Cruciat C.-M.,
Remor M.,
Hoefert C.,
Schelder M.,
Brajenovic M.,
Ruffner H.,
Merino A.,
Klein K.,
Hudak M.,
Dickson D., ![]()
Rudi T.,
Gnau V.,
Bauch A.,
Bastuck S.,
Huhse B.,
Leutwein C.,
Heurtier M.-A.,
Copley R.R.,
Edelmann A.,
Querfurth E.,
Rybin V.,
Drewes G.,
Raida M.,
Bouwmeester T.,
Bork P.,
Seraphin B.,
Kuster B.,
Neubauer G.,
Superti-Furga G.;
"Functional organization of the yeast proteome by systematic analysis of protein complexes.";
Nature 415:141-147(2002).
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[9]
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IDENTIFICATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
Colinge J.,
Superti-Furga G.,
Bennett K.L.;
Submitted (OCT-2008) to UniProtKB.
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[10]
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VARIANTS SEDT TYR-47; LEU-73 AND ASP-130.
DOI=10.1086/320592; PubMed=11349230 [NCBI, ExPASy, EBI, Israel, Japan]
Gedeon A.K.,
Tiller G.E.,
Le Merrer M.,
Heuertz S.,
Tranebjaerg L.,
Chitayat D.,
Robertson S.,
Glass I.A.,
Savarirayan R.,
Cole W.G.,
Rimoin D.L.,
Kousseff B.G.,
Ohashi H.,
Zabel B.,
Munnich A.,
Gecz J.,
Mulley J.C.;
"The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.";
Am. J. Hum. Genet. 68:1386-1397(2001).
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[11]
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VARIANT SEDT SER-83.
DOI=10.1136/jmg.38.6.409; PubMed=11424925 [NCBI, ExPASy, EBI, Israel, Japan]
Grunebaum E.,
Arpaia E.,
MacKenzie J.J.,
Fitzpatrick J.,
Ray P.N.,
Roifman C.M.;
"A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree.";
J. Med. Genet. 38:409-411(2001).
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