16110300

Source:http://linkedlifedata.com/resource/pubmed/id/16110300

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0009691, umls-concept:C0026882, umls-concept:C0266544, umls-concept:C0332281, umls-concept:C1413729
pubmed:dateCreated	2005-8-19
pubmed:abstractText	The molecular characterization of a UK family with an autosomal dominant congenital cataract associated with microcornea is reported.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9605351
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/CRYBB1 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/beta-Crystallin B Chain
pubmed:status	MEDLINE
pubmed:issn	1090-0535
pubmed:author	pubmed-author:BillingsleyGailG, pubmed-author:ChanLouie Loh YenLL, pubmed-author:ChandnaArvindA, pubmed-author:FerriniWalterW, pubmed-author:HéonEliseE, pubmed-author:KayeStephenS, pubmed-author:MokCalvinC, pubmed-author:PristonMeganM, pubmed-author:ShafiqAyadA, pubmed-author:WilloughbyColin ECE
pubmed:issnType	Electronic
pubmed:volume	11
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	587-93
pubmed:dateRevised	2010-11-18
pubmed:meshHeading	pubmed-meshheading:16110300-Adolescent, pubmed-meshheading:16110300-Adult, pubmed-meshheading:16110300-Aged, pubmed-meshheading:16110300-Cataract, pubmed-meshheading:16110300-Child, pubmed-meshheading:16110300-Chromosomes, Human, Pair 22, pubmed-meshheading:16110300-Cornea, pubmed-meshheading:16110300-DNA Mutational Analysis, pubmed-meshheading:16110300-Eye Abnormalities, pubmed-meshheading:16110300-Female, pubmed-meshheading:16110300-Genes, Dominant, pubmed-meshheading:16110300-Genetic Linkage, pubmed-meshheading:16110300-Humans, pubmed-meshheading:16110300-Infant, pubmed-meshheading:16110300-Male, pubmed-meshheading:16110300-Middle Aged, pubmed-meshheading:16110300-Mutation, pubmed-meshheading:16110300-Pedigree, pubmed-meshheading:16110300-Phenotype, pubmed-meshheading:16110300-Polymerase Chain Reaction, pubmed-meshheading:16110300-Polymorphism, Single-Stranded Conformational, pubmed-meshheading:16110300-beta-Crystallin B Chain
pubmed:year	2005
pubmed:articleTitle	CRYBB1 mutation associated with congenital cataract and microcornea.
pubmed:affiliation	Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Canada. c.willoughby@qub.ac.uk
pubmed:publicationType	Journal Article, Research Support, Non-U.S. Gov't