19262743

Source:http://linkedlifedata.com/resource/pubmed/id/19262743

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0017337, umls-concept:C0026882, umls-concept:C0205314, umls-concept:C0678227, umls-concept:C0679622, umls-concept:C1413740, umls-concept:C1858679, umls-concept:C2720253
pubmed:dateCreated	2009-3-5
pubmed:abstractText	To identify the underlying genetic defect in a north Indian family with seven members in three-generations affected with bilateral congenital cataract.
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pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9605351
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/CRYGS protein, human, http://linkedlifedata.com/resource/pubmed/chemical/DNA, http://linkedlifedata.com/resource/pubmed/chemical/gamma-Crystallins
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	15
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	476-81
pubmed:dateRevised	2009-11-18
pubmed:meshHeading	pubmed-meshheading:19262743-Amino Acid Sequence, pubmed-meshheading:19262743-Amino Acid Substitution, pubmed-meshheading:19262743-Base Sequence, pubmed-meshheading:19262743-Case-Control Studies, pubmed-meshheading:19262743-Cataract, pubmed-meshheading:19262743-Child, Preschool, pubmed-meshheading:19262743-Chromosome Mapping, pubmed-meshheading:19262743-Chromosomes, Human, Pair 3, pubmed-meshheading:19262743-DNA, pubmed-meshheading:19262743-DNA Mutational Analysis, pubmed-meshheading:19262743-Female, pubmed-meshheading:19262743-Genes, Dominant, pubmed-meshheading:19262743-Humans, pubmed-meshheading:19262743-India, pubmed-meshheading:19262743-Male, pubmed-meshheading:19262743-Molecular Sequence Data, pubmed-meshheading:19262743-Mutation, Missense, pubmed-meshheading:19262743-Pedigree, pubmed-meshheading:19262743-Sequence Homology, Amino Acid, pubmed-meshheading:19262743-gamma-Crystallins
pubmed:year	2009
pubmed:articleTitle	Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract.
pubmed:affiliation	Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India. vanita_kumar@yahoo.com
pubmed:publicationType	Journal Article, Case Reports, Research Support, Non-U.S. Gov't