| pubmed-article:14595441 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:14595441 | lifeskim:mentions | umls-concept:C0332307 | lld:lifeskim |
| pubmed-article:14595441 | lifeskim:mentions | umls-concept:C0019425 | lld:lifeskim |
| pubmed-article:14595441 | lifeskim:mentions | umls-concept:C0028863 | lld:lifeskim |
| pubmed-article:14595441 | lifeskim:mentions | umls-concept:C0016059 | lld:lifeskim |
| pubmed-article:14595441 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:14595441 | lifeskim:mentions | umls-concept:C0085139 | lld:lifeskim |
| pubmed-article:14595441 | lifeskim:mentions | umls-concept:C1851102 | lld:lifeskim |
| pubmed-article:14595441 | lifeskim:mentions | umls-concept:C1744681 | lld:lifeskim |
| pubmed-article:14595441 | lifeskim:mentions | umls-concept:C1426181 | lld:lifeskim |
| pubmed-article:14595441 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:14595441 | pubmed:dateCreated | 2003-12-3 | lld:pubmed |
| pubmed-article:14595441 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:14595441 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:14595441 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:14595441 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:14595441 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:14595441 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:14595441 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:14595441 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:14595441 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:14595441 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:14595441 | pubmed:abstractText | Congenital fibrosis of the extraocular muscles type 1 (CFEOM1; OMIM #135700) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. We show that individuals with CFEOM1 harbor heterozygous missense mutations in a kinesin motor protein encoded by KIF21A. We identified six different mutations in 44 of 45 probands. The primary mutational hotspots are in the stalk domain, highlighting an important new role for KIF21A and its stalk in the formation of the oculomotor axis. | lld:pubmed |
| pubmed-article:14595441 | pubmed:language | eng | lld:pubmed |
| pubmed-article:14595441 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:14595441 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:14595441 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:14595441 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:14595441 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:14595441 | pubmed:month | Dec | lld:pubmed |
| pubmed-article:14595441 | pubmed:issn | 1061-4036 | lld:pubmed |
| pubmed-article:14595441 | pubmed:author | pubmed-author:DemerJoseph... | lld:pubmed |
| pubmed-article:14595441 | pubmed:author | pubmed-author:HartBlaine... | lld:pubmed |
| pubmed-article:14595441 | pubmed:author | pubmed-author:BrodskyMichae... | lld:pubmed |
| pubmed-article:14595441 | pubmed:author | pubmed-author:LevinAlex VAV | lld:pubmed |
| pubmed-article:14595441 | pubmed:author | pubmed-author:UyamaEiichiro... | lld:pubmed |
| pubmed-article:14595441 | pubmed:author | pubmed-author:GottlobIreneI | lld:pubmed |
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| pubmed-article:14595441 | pubmed:author | pubmed-author:TraboulsiElia... | lld:pubmed |
| pubmed-article:14595441 | pubmed:author | pubmed-author:MatsumotoNaom... | lld:pubmed |
| pubmed-article:14595441 | pubmed:author | pubmed-author:EngleElizabet... | lld:pubmed |
| pubmed-article:14595441 | pubmed:author | pubmed-author:YamadaKokiK | lld:pubmed |
| pubmed-article:14595441 | pubmed:author | pubmed-author:O'KeefeMichae... | lld:pubmed |
| pubmed-article:14595441 | pubmed:author | pubmed-author:LetsonRobertR | lld:pubmed |
| pubmed-article:14595441 | pubmed:author | pubmed-author:LondonArnoldA | lld:pubmed |
| pubmed-article:14595441 | pubmed:author | pubmed-author:RuttumMarkM | lld:pubmed |
| pubmed-article:14595441 | pubmed:author | pubmed-author:SaitoNakamich... | lld:pubmed |
| pubmed-article:14595441 | pubmed:author | pubmed-author:MorrisLisaL | lld:pubmed |
| pubmed-article:14595441 | pubmed:author | pubmed-author:Del... | lld:pubmed |
| pubmed-article:14595441 | pubmed:author | pubmed-author:MagliAdrianoA | lld:pubmed |
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| pubmed-article:14595441 | pubmed:author | pubmed-author:LazarMosheM | lld:pubmed |
| pubmed-article:14595441 | pubmed:author | pubmed-author:AkarsuA... | lld:pubmed |
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| pubmed-article:14595441 | pubmed:author | pubmed-author:ChanWai-ManWM | lld:pubmed |
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| pubmed-article:14595441 | pubmed:author | pubmed-author:CarlowThomas... | lld:pubmed |
| pubmed-article:14595441 | pubmed:author | pubmed-author:HanischFrankF | lld:pubmed |
| pubmed-article:14595441 | pubmed:author | pubmed-author:KowalLionelL | lld:pubmed |
| pubmed-article:14595441 | pubmed:author | pubmed-author:RobbRichard... | lld:pubmed |
| pubmed-article:14595441 | pubmed:author | pubmed-author:JohnsonRoger... | lld:pubmed |
| pubmed-article:14595441 | pubmed:author | pubmed-author:HoutmanWillem... | lld:pubmed |
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| pubmed-article:14595441 | pubmed:author | pubmed-author:ShoffnerJohnJ | lld:pubmed |
| pubmed-article:14595441 | pubmed:author | pubmed-author:VogelMarlene... | lld:pubmed |
| pubmed-article:14595441 | pubmed:author | pubmed-author:KatowitzJames... | lld:pubmed |
| pubmed-article:14595441 | pubmed:author | pubmed-author:SenerEmin CEC | lld:pubmed |
| pubmed-article:14595441 | pubmed:author | pubmed-author:OzturkBanu... | lld:pubmed |
| pubmed-article:14595441 | pubmed:author | pubmed-author:CruseRobert... | lld:pubmed |
| pubmed-article:14595441 | pubmed:author | pubmed-author:Roggenkäemper... | lld:pubmed |
| pubmed-article:14595441 | pubmed:author | pubmed-author:BattuRaviR | lld:pubmed |
| pubmed-article:14595441 | pubmed:author | pubmed-author:NewlinAnnaA | lld:pubmed |
| pubmed-article:14595441 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:14595441 | pubmed:volume | 35 | lld:pubmed |
| pubmed-article:14595441 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:14595441 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:14595441 | pubmed:pagination | 318-21 | lld:pubmed |
| pubmed-article:14595441 | pubmed:dateRevised | 2010-11-18 | lld:pubmed |
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