18587493

Source:http://linkedlifedata.com/resource/pubmed/id/18587493

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0015576, umls-concept:C0026882, umls-concept:C0029053, umls-concept:C0086543, umls-concept:C0332281, umls-concept:C0422792, umls-concept:C0439659, umls-concept:C1415075
pubmed:dateCreated	2008-6-30
pubmed:abstractText	To detect the underlying genetic defect in a family with three members in two generations affected with bilateral congenital cataract.
pubmed:commentsCorrections	http://linkedlifedata.com/resource/pubmed/commentcorrection/18587493-10205266, http://linkedlifedata.com/resource/pubmed/commentcorrection/18587493-10362609, http://linkedlifedata.com/resource/pubmed/commentcorrection/18587493-10480374, http://linkedlifedata.com/resource/pubmed/commentcorrection/18587493-10668929, http://linkedlifedata.com/resource/pubmed/commentcorrection/18587493-11786642, http://linkedlifedata.com/resource/pubmed/commentcorrection/18587493-11846744, http://linkedlifedata.com/resource/pubmed/commentcorrection/18587493-12108537, http://linkedlifedata.com/resource/pubmed/commentcorrection/18587493-12126230, http://linkedlifedata.com/resource/pubmed/commentcorrection/18587493-12686301, http://linkedlifedata.com/resource/pubmed/commentcorrection/18587493-14059288, http://linkedlifedata.com/resource/pubmed/commentcorrection/18587493-14627691, http://linkedlifedata.com/resource/pubmed/commentcorrection/18587493-15041957, http://linkedlifedata.com/resource/pubmed/commentcorrection/18587493-15110667, http://linkedlifedata.com/resource/pubmed/commentcorrection/18587493-16234473, http://linkedlifedata.com/resource/pubmed/commentcorrection/18587493-16397066, http://linkedlifedata.com/resource/pubmed/commentcorrection/18587493-16604058, http://linkedlifedata.com/resource/pubmed/commentcorrection/18587493-16735993, http://linkedlifedata.com/resource/pubmed/commentcorrection/18587493-17110920, http://linkedlifedata.com/resource/pubmed/commentcorrection/18587493-17601931, http://linkedlifedata.com/resource/pubmed/commentcorrection/18587493-17653060, http://linkedlifedata.com/resource/pubmed/commentcorrection/18587493-17724170, http://linkedlifedata.com/resource/pubmed/commentcorrection/18587493-18006672, http://linkedlifedata.com/resource/pubmed/commentcorrection/18587493-18035564, http://linkedlifedata.com/resource/pubmed/commentcorrection/18587493-18247306, http://linkedlifedata.com/resource/pubmed/commentcorrection/18587493-18334946, http://linkedlifedata.com/resource/pubmed/commentcorrection/18587493-18334966, http://linkedlifedata.com/resource/pubmed/commentcorrection/18587493-1967986, http://linkedlifedata.com/resource/pubmed/commentcorrection/18587493-5246559, http://linkedlifedata.com/resource/pubmed/commentcorrection/18587493-8190472, http://linkedlifedata.com/resource/pubmed/commentcorrection/18587493-8724637, http://linkedlifedata.com/resource/pubmed/commentcorrection/18587493-9158139, http://linkedlifedata.com/resource/pubmed/commentcorrection/18587493-9497259
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9605351
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Connexins, http://linkedlifedata.com/resource/pubmed/chemical/Eye Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Glutamine, http://linkedlifedata.com/resource/pubmed/chemical/Proline, http://linkedlifedata.com/resource/pubmed/chemical/connexin 50
pubmed:status	MEDLINE
pubmed:issn	1090-0535
pubmed:author	pubmed-author:SinghDaljitD, pubmed-author:SinghJai RupJR, pubmed-author:SperlingKarlK, pubmed-author:VaronRaymondaR, pubmed-author:XXX
pubmed:issnType	Electronic
pubmed:volume	14
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	1171-5
pubmed:dateRevised	2009-11-18
pubmed:meshHeading	pubmed-meshheading:18587493-Amino Acid Substitution, pubmed-meshheading:18587493-Base Sequence, pubmed-meshheading:18587493-Cataract, pubmed-meshheading:18587493-Child, pubmed-meshheading:18587493-Connexins, pubmed-meshheading:18587493-DNA Mutational Analysis, pubmed-meshheading:18587493-Eye Proteins, pubmed-meshheading:18587493-Family, pubmed-meshheading:18587493-Female, pubmed-meshheading:18587493-Genetic Predisposition to Disease, pubmed-meshheading:18587493-Glutamine, pubmed-meshheading:18587493-Great Britain, pubmed-meshheading:18587493-Humans, pubmed-meshheading:18587493-India, pubmed-meshheading:18587493-Male, pubmed-meshheading:18587493-Molecular Sequence Data, pubmed-meshheading:18587493-Mutation, pubmed-meshheading:18587493-Pedigree, pubmed-meshheading:18587493-Phenotype, pubmed-meshheading:18587493-Proline
pubmed:year	2008
pubmed:articleTitle	A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin.
pubmed:affiliation	Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India. vanita_kumar@yahoo.com
pubmed:publicationType	Journal Article, Research Support, Non-U.S. Gov't