21738390

Source:http://linkedlifedata.com/resource/pubmed/id/21738390

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0015576, umls-concept:C0019904, umls-concept:C0026882, umls-concept:C1261322, umls-concept:C1516634, umls-concept:C1826421
pubmed:dateCreated	2011-7-8
pubmed:abstractText	To describe the clinical and genetic findings in two consanguineous families with Best vitelliform macular dystrophy (BVMD) and homozygous mutations in the bestrophin-1 (BEST1) gene.
pubmed:commentsCorrections	http://linkedlifedata.com/resource/pubmed/commentcorrection/21738390-10331951, http://linkedlifedata.com/resource/pubmed/commentcorrection/21738390-10617923, http://linkedlifedata.com/resource/pubmed/commentcorrection/21738390-11050159, http://linkedlifedata.com/resource/pubmed/commentcorrection/21738390-11449320, http://linkedlifedata.com/resource/pubmed/commentcorrection/21738390-12907679, http://linkedlifedata.com/resource/pubmed/commentcorrection/21738390-15452084, http://linkedlifedata.com/resource/pubmed/commentcorrection/21738390-16272056, http://linkedlifedata.com/resource/pubmed/commentcorrection/21738390-16282372, http://linkedlifedata.com/resource/pubmed/commentcorrection/21738390-16754206, http://linkedlifedata.com/resource/pubmed/commentcorrection/21738390-17110374, http://linkedlifedata.com/resource/pubmed/commentcorrection/21738390-17477921, http://linkedlifedata.com/resource/pubmed/commentcorrection/21738390-17698758, http://linkedlifedata.com/resource/pubmed/commentcorrection/21738390-18179881, http://linkedlifedata.com/resource/pubmed/commentcorrection/21738390-18391176, http://linkedlifedata.com/resource/pubmed/commentcorrection/21738390-18985398, http://linkedlifedata.com/resource/pubmed/commentcorrection/21738390-19375515, http://linkedlifedata.com/resource/pubmed/commentcorrection/21738390-19398034, http://linkedlifedata.com/resource/pubmed/commentcorrection/21738390-19853238, http://linkedlifedata.com/resource/pubmed/commentcorrection/21738390-20057903, http://linkedlifedata.com/resource/pubmed/commentcorrection/21738390-20349192, http://linkedlifedata.com/resource/pubmed/commentcorrection/21738390-20375334, http://linkedlifedata.com/resource/pubmed/commentcorrection/21738390-21192766, http://linkedlifedata.com/resource/pubmed/commentcorrection/21738390-21273940, http://linkedlifedata.com/resource/pubmed/commentcorrection/21738390-21293734, http://linkedlifedata.com/resource/pubmed/commentcorrection/21738390-8723685, http://linkedlifedata.com/resource/pubmed/commentcorrection/21738390-9662395, http://linkedlifedata.com/resource/pubmed/commentcorrection/21738390-9700209
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9605351
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/BEST1 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Chloride Channels, http://linkedlifedata.com/resource/pubmed/chemical/Eye Proteins
pubmed:status	MEDLINE
pubmed:issn	1090-0535
pubmed:author	pubmed-author:ÁlvarezMaríaM, pubmed-author:CamposSeverianoS, pubmed-author:PereiroInésI, pubmed-author:Piñeiro-GallegoTeresaT, pubmed-author:SchatzPatrikP, pubmed-author:SharonDrorD, pubmed-author:ValverdeDianaD
pubmed:issnType	Electronic
pubmed:volume	17
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	1607-17
pubmed:meshHeading	pubmed-meshheading:21738390-Child, pubmed-meshheading:21738390-Child, Preschool, pubmed-meshheading:21738390-Chloride Channels, pubmed-meshheading:21738390-Consanguinity, pubmed-meshheading:21738390-Denmark, pubmed-meshheading:21738390-Electrooculography, pubmed-meshheading:21738390-Exons, pubmed-meshheading:21738390-Eye Proteins, pubmed-meshheading:21738390-Female, pubmed-meshheading:21738390-Genetic Association Studies, pubmed-meshheading:21738390-Genotype, pubmed-meshheading:21738390-Heterozygote, pubmed-meshheading:21738390-Homozygote, pubmed-meshheading:21738390-Humans, pubmed-meshheading:21738390-Male, pubmed-meshheading:21738390-Mutation, Missense, pubmed-meshheading:21738390-Oligonucleotide Array Sequence Analysis, pubmed-meshheading:21738390-Pedigree, pubmed-meshheading:21738390-Phenotype, pubmed-meshheading:21738390-Sequence Analysis, DNA, pubmed-meshheading:21738390-Severity of Illness Index, pubmed-meshheading:21738390-Spain, pubmed-meshheading:21738390-Tomography, Optical Coherence, pubmed-meshheading:21738390-Vitelliform Macular Dystrophy
pubmed:year	2011
pubmed:articleTitle	Clinical evaluation of two consanguineous families with homozygous mutations in BEST1.
pubmed:affiliation	Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Spain.
pubmed:publicationType	Journal Article, Research Support, Non-U.S. Gov't