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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
2006-5-1
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pubmed:abstractText |
The majority of COL2A1 missense mutations are substitutions of obligatory glycine residues in the triple helical domain. Only a few non-glycine missense mutations have been reported and among these, the arginine to cysteine substitutions predominate.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/16155195-10372559,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16155195-11007540,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16155195-11708863,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16155195-11771668,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16155195-12205109,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16155195-12359167,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16155195-15522781,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16155195-15593085,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16155195-15643621,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16155195-1975693,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16155195-1985108,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16155195-2346522,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16155195-2741952,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16155195-7738948,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16155195-7752132,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16155195-7757086,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16155195-8024616,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16155195-8129781,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16155195-8157027,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16155195-8244341,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16155195-8325895,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16155195-8702144,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16155195-8877930,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16155195-9045670,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16155195-9101290,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16155195-9711874,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16155195-9800905
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
1468-6244
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pubmed:author |
pubmed-author:BeemerF AFA,
pubmed-author:CouckePP,
pubmed-author:CourtensWW,
pubmed-author:De PaepeAA,
pubmed-author:DewinterCC,
pubmed-author:FryerAA,
pubmed-author:FryssiraHH,
pubmed-author:HoornaertK PKP,
pubmed-author:LeffSS,
pubmed-author:Müllner-EidenböckAA,
pubmed-author:MortierG RGR,
pubmed-author:RimoinD LDL,
pubmed-author:SideriusLL,
pubmed-author:Superti-FurgaAA,
pubmed-author:TempleKK,
pubmed-author:VereeckeII,
pubmed-author:WillemsP JPJ,
pubmed-author:ZanklAA,
pubmed-author:ZweierCC
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pubmed:issnType |
Electronic
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pubmed:volume |
43
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
406-13
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:16155195-Adult,
pubmed-meshheading:16155195-Arginine,
pubmed-meshheading:16155195-Child,
pubmed-meshheading:16155195-Child, Preschool,
pubmed-meshheading:16155195-Collagen Diseases,
pubmed-meshheading:16155195-Collagen Type II,
pubmed-meshheading:16155195-Cysteine,
pubmed-meshheading:16155195-DNA Mutational Analysis,
pubmed-meshheading:16155195-Female,
pubmed-meshheading:16155195-Humans,
pubmed-meshheading:16155195-Male,
pubmed-meshheading:16155195-Mutation, Missense,
pubmed-meshheading:16155195-Phenotype
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pubmed:year |
2006
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pubmed:articleTitle |
The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene.
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pubmed:affiliation |
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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