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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2008-2-4
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pubmed:abstractText |
The fibroblast growth factor receptor 3 gene (FGFR3) plays a critical role in cartilage growth-plate differentiation and bony development. It has been shown that 97% of patients with achondroplasia have a G to A transition mutation at position 1138 (c.1138 G>A) of codon 380 of the FGFR3 gene.
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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 |
Feb
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pubmed:issn |
0009-9120
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
41
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
162-6
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:18199430-Achondroplasia,
pubmed-meshheading:18199430-Cartilage,
pubmed-meshheading:18199430-Chromatography, High Pressure Liquid,
pubmed-meshheading:18199430-DNA Mutational Analysis,
pubmed-meshheading:18199430-Fibroblast Growth Factor 3,
pubmed-meshheading:18199430-Heteroduplex Analysis,
pubmed-meshheading:18199430-Humans,
pubmed-meshheading:18199430-Nucleic Acid Denaturation,
pubmed-meshheading:18199430-Point Mutation,
pubmed-meshheading:18199430-Polymorphism, Single Nucleotide,
pubmed-meshheading:18199430-Receptor, Fibroblast Growth Factor, Type 3,
pubmed-meshheading:18199430-Sensitivity and Specificity,
pubmed-meshheading:18199430-Taiwan,
pubmed-meshheading:18199430-Transition Temperature
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pubmed:year |
2008
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pubmed:articleTitle |
Genotyping of the G1138A mutation of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis.
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pubmed:affiliation |
Institute of Biomedical Engineering, College of Medicine and College of Engineering, National Taiwan University, Taipei, Taiwan.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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