15017378

Source:http://linkedlifedata.com/resource/pubmed/id/15017378

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0015576, umls-concept:C0026882, umls-concept:C1336623, umls-concept:C1556107, umls-concept:C1837514
pubmed:issue	7
pubmed:dateCreated	2004-7-7
pubmed:abstractText	To report a Bangladeshi family displaying intrafamilial phenotypic heterogeneity of lattice corneal dystrophy type I (LCDI) and to identify the causative mutation.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/8703986
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:month	Jul
pubmed:issn	0950-222X
pubmed:author	pubmed-author:Abd El-AzizM MMM, pubmed-author:BhattacharyaS SSS, pubmed-author:EbenezerN DND, pubmed-author:El-AshryM FMF, pubmed-author:FickerL ALA, pubmed-author:HardcastleA JAJ
pubmed:issnType	Print
pubmed:volume	18
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	723-8
pubmed:dateRevised	2009-11-3
pubmed:meshHeading	pubmed-meshheading:15017378-Adult, pubmed-meshheading:15017378-Child, pubmed-meshheading:15017378-Corneal Dystrophies, Hereditary, pubmed-meshheading:15017378-Extracellular Matrix Proteins, pubmed-meshheading:15017378-Female, pubmed-meshheading:15017378-Heteroduplex Analysis, pubmed-meshheading:15017378-Humans, pubmed-meshheading:15017378-Male, pubmed-meshheading:15017378-Mutation, pubmed-meshheading:15017378-Pedigree, pubmed-meshheading:15017378-Phenotype, pubmed-meshheading:15017378-Transforming Growth Factor beta
pubmed:year	2004
pubmed:articleTitle	BIGH3 mutation in a Bangladeshi family with a variable phenotype of LCDI.
pubmed:affiliation	Department of Molecular Genetics, Institute of Ophthalmology, London, UK. m_el_ashry@hotmailcom
pubmed:publicationType	Journal Article, Case Reports, Research Support, Non-U.S. Gov't