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rdf:type |
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lifeskim:mentions |
umls-concept:C0009331,
umls-concept:C0015576,
umls-concept:C0017431,
umls-concept:C0026882,
umls-concept:C0031437,
umls-concept:C0205453,
umls-concept:C0265253,
umls-concept:C0678226,
umls-concept:C1333079,
umls-concept:C1413580,
umls-concept:C1707520,
umls-concept:C1708726
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pubmed:issue |
1
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pubmed:dateCreated |
2003-1-24
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pubmed:abstractText |
To evaluate a cohort of clinically diagnosed Stickler patients in which the causative mutation has been identified, determine the prevalence of clinical features in this group as a whole and as a function of age, and look for genotype/phenotype correlations.
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pubmed:grant |
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pubmed:commentsCorrections |
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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:issn |
1098-3600
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pubmed:author |
pubmed-author:BalogJoan ZJZ,
pubmed-author:DavisJoieJ,
pubmed-author:FrancomanoClair ACA,
pubmed-author:GriffithAndrew JAJ,
pubmed-author:JohnstonJennifer JJJ,
pubmed-author:LevyHoward PHP,
pubmed-author:LiberfarbRuth MRM,
pubmed-author:RosePeter SPS,
pubmed-author:RubinBenhamin IBI,
pubmed-author:Szymko-BennettYvonne MYM,
pubmed-author:TsilouEkaterinaE,
pubmed-author:WilkinDouglas JDJ
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pubmed:issnType |
Print
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pubmed:volume |
5
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
21-7
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pubmed:dateRevised |
2007-11-15
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pubmed:meshHeading |
pubmed-meshheading:12544472-Adolescent,
pubmed-meshheading:12544472-Adult,
pubmed-meshheading:12544472-Collagen,
pubmed-meshheading:12544472-Collagen Type II,
pubmed-meshheading:12544472-Connective Tissue Diseases,
pubmed-meshheading:12544472-Female,
pubmed-meshheading:12544472-Genotype,
pubmed-meshheading:12544472-Humans,
pubmed-meshheading:12544472-Male,
pubmed-meshheading:12544472-Mutation,
pubmed-meshheading:12544472-Phenotype,
pubmed-meshheading:12544472-Statistics as Topic
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pubmed:articleTitle |
The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1.
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pubmed:affiliation |
Genetics and Teratology Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Review,
Research Support, Non-U.S. Gov't
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