19822856

Source:http://linkedlifedata.com/resource/pubmed/id/19822856

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0015576, umls-concept:C0021201, umls-concept:C0205210, umls-concept:C0314603, umls-concept:C1275685, umls-concept:C1709269, umls-concept:C1979963, umls-concept:C2003903
pubmed:issue	10
pubmed:dateCreated	2009-10-13
pubmed:abstractText	To report Avellino corneal dystrophy and underlying R124H mutation in 2 families of Indian origin.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/7706534
pubmed:citationSubset	AIM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Extracellular Matrix Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Genetic Markers, http://linkedlifedata.com/resource/pubmed/chemical/Transforming Growth Factor beta, http://linkedlifedata.com/resource/pubmed/chemical/betaIG-H3 protein
pubmed:status	MEDLINE
pubmed:month	Oct
pubmed:issn	1538-3601
pubmed:author	pubmed-author:GuptaJayaJ, pubmed-author:PaliwalPreetiP, pubmed-author:SharmaArundhatiA, pubmed-author:TandonRadhikaR, pubmed-author:VajpayeeRasik BRB
pubmed:issnType	Electronic
pubmed:volume	127
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	1373-6
pubmed:dateRevised	2009-11-19
pubmed:meshHeading	pubmed-meshheading:19822856-Adult, pubmed-meshheading:19822856-Corneal Dystrophies, Hereditary, pubmed-meshheading:19822856-Extracellular Matrix Proteins, pubmed-meshheading:19822856-Female, pubmed-meshheading:19822856-Genetic Markers, pubmed-meshheading:19822856-Genetic Predisposition to Disease, pubmed-meshheading:19822856-Genetic Testing, pubmed-meshheading:19822856-Genotype, pubmed-meshheading:19822856-Humans, pubmed-meshheading:19822856-India, pubmed-meshheading:19822856-Male, pubmed-meshheading:19822856-Microscopy, Confocal, pubmed-meshheading:19822856-Middle Aged, pubmed-meshheading:19822856-Mutation, Missense, pubmed-meshheading:19822856-Pedigree, pubmed-meshheading:19822856-Phenotype, pubmed-meshheading:19822856-Polymerase Chain Reaction, pubmed-meshheading:19822856-Transforming Growth Factor beta, pubmed-meshheading:19822856-Young Adult
pubmed:year	2009
pubmed:articleTitle	Clinical and genetic profile of Avellino corneal dystrophy in 2 families from north India.
pubmed:affiliation	Laboratory of Cyto-Molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences, New Delhi.
pubmed:publicationType	Journal Article, Case Reports, Research Support, Non-U.S. Gov't