17724170

Source:http://linkedlifedata.com/resource/pubmed/id/17724170

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0026882, umls-concept:C0205314, umls-concept:C0242960, umls-concept:C0679622, umls-concept:C1413736, umls-concept:C1415075, umls-concept:C1439327
pubmed:issue	9
pubmed:dateCreated	2007-8-28
pubmed:abstractText	To unravel the molecular genetic background in families with congenital cataract in association with microcornea (CCMC, OMIM 116150).
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/7703701
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/CRYAA protein, human, http://linkedlifedata.com/resource/pubmed/chemical/CRYGD protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Connexins, http://linkedlifedata.com/resource/pubmed/chemical/Crystallins, http://linkedlifedata.com/resource/pubmed/chemical/Eye Proteins, http://linkedlifedata.com/resource/pubmed/chemical/connexin 50, http://linkedlifedata.com/resource/pubmed/chemical/gamma-Crystallins
pubmed:status	MEDLINE
pubmed:month	Sep
pubmed:issn	0146-0404
pubmed:author	pubmed-author:BaggesenKirstenK, pubmed-author:EibergHansH, pubmed-author:HansenLarsL, pubmed-author:HejtmancikJ FieldingJF, pubmed-author:KjaerKlaus WilbrandtKW, pubmed-author:RosenbergThomasT, pubmed-author:YaoWenliangW
pubmed:issnType	Print
pubmed:volume	48
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	3937-44
pubmed:dateRevised	2010-5-21
pubmed:meshHeading	pubmed-meshheading:17724170-Amino Acid Sequence, pubmed-meshheading:17724170-Cataract, pubmed-meshheading:17724170-Chromosome Mapping, pubmed-meshheading:17724170-Connexins, pubmed-meshheading:17724170-Cornea, pubmed-meshheading:17724170-Crystallins, pubmed-meshheading:17724170-DNA Mutational Analysis, pubmed-meshheading:17724170-Eye Abnormalities, pubmed-meshheading:17724170-Eye Proteins, pubmed-meshheading:17724170-Female, pubmed-meshheading:17724170-Genes, Dominant, pubmed-meshheading:17724170-Genetic Heterogeneity, pubmed-meshheading:17724170-Humans, pubmed-meshheading:17724170-Male, pubmed-meshheading:17724170-Molecular Sequence Data, pubmed-meshheading:17724170-Mutation, pubmed-meshheading:17724170-Pedigree, pubmed-meshheading:17724170-Phenotype, pubmed-meshheading:17724170-Polymerase Chain Reaction, pubmed-meshheading:17724170-Sequence Analysis, DNA, pubmed-meshheading:17724170-gamma-Crystallins
pubmed:year	2007
pubmed:articleTitle	Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.
pubmed:affiliation	Wilhelm Johannsen Centre for Functional Genome Research, Department G, Institute of Medical Biochemistry and Genetics, Panum Institute, University of Copenhagen, Copenhagen, Denmark. larsh@imbg.ku.dk
pubmed:publicationType	Journal Article, Research Support, Non-U.S. Gov't