18465714

Source:http://linkedlifedata.com/resource/pubmed/id/18465714

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0011900, umls-concept:C0026882, umls-concept:C0035820, umls-concept:C1275685, umls-concept:C1336623
pubmed:issue	3
pubmed:dateCreated	2008-5-9
pubmed:abstractText	To report the presence of the R124H mutation in two Spanish families with Avellino corneal dystrophy (ACD).
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9110772
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Extracellular Matrix Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Transforming Growth Factor beta, http://linkedlifedata.com/resource/pubmed/chemical/betaIG-H3 protein
pubmed:status	MEDLINE
pubmed:issn	1120-6721
pubmed:author	pubmed-author:HuervaVV, pubmed-author:Matias-GuiuXX, pubmed-author:SanchezM CMC, pubmed-author:VelascoAA
pubmed:issnType	Print
pubmed:volume	18
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	345-50
pubmed:meshHeading	pubmed-meshheading:18465714-Adult, pubmed-meshheading:18465714-Aged, pubmed-meshheading:18465714-Aged, 80 and over, pubmed-meshheading:18465714-Amino Acid Substitution, pubmed-meshheading:18465714-Base Sequence, pubmed-meshheading:18465714-Corneal Dystrophies, Hereditary, pubmed-meshheading:18465714-Corneal Stroma, pubmed-meshheading:18465714-DNA Mutational Analysis, pubmed-meshheading:18465714-Extracellular Matrix Proteins, pubmed-meshheading:18465714-Female, pubmed-meshheading:18465714-Humans, pubmed-meshheading:18465714-Male, pubmed-meshheading:18465714-Middle Aged, pubmed-meshheading:18465714-Molecular Sequence Data, pubmed-meshheading:18465714-Pedigree, pubmed-meshheading:18465714-Point Mutation, pubmed-meshheading:18465714-Polymerase Chain Reaction, pubmed-meshheading:18465714-Spain, pubmed-meshheading:18465714-Transforming Growth Factor beta
pubmed:articleTitle	Role of BIGH3 R124H mutation in the diagnosis of Avellino corneal dystrophy.
pubmed:affiliation	Ophthalmology Department, University Hospital Arnau de Vilanova, Lleida, University of Lleida, IRB-Lleida - Spain. vhuerva@mixmail.com
pubmed:publicationType	Journal Article