Cloning of Canine Galactokinase (GALK1) and Evaluation as a Candidate Gene for Hereditary Cataracts in Labrador Retrievers

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dc.contributor.authorSidjanin, Duska J
dc.contributor.authorAguirre, Gustavo D
dc.contributor.authorAguirre, Gustavo D
dc.contributor.authorMcElwee, John L
dc.contributor.authorMiller, Brian
dc.date2023-05-17T11:20:58.000
dc.date.accessioned2023-05-23T04:45:50Z
dc.date.available2023-05-23T04:45:50Z
dc.date.issued2005-06-01
dc.date.submitted2015-04-15T09:23:09-07:00
dc.description.abstractWe identified a pedigree of Labrador retrievers (LR) that develop hereditary cataracts between 6 and 18 months of age. In humans, galactokinase deficiency is an autosomal recessive disorder characterized by juvenile onset of cataracts.1 In order to evaluate GALK1 as a candidate gene, we cloned and sequenced the canine GALK1 gene and tested a single nucleotide polymorphism (SNP) in the gene for segregation with cataracts in the LR pedigree.
dc.identifier.urihttps://repository.upenn.edu/handle/20.500.14332/49004
dc.legacy.articleid1127
dc.legacy.fields10.1111/j.1365-2052.2005.01275.x
dc.legacy.fulltexturlhttps://repository.upenn.edu/cgi/viewcontent.cgi?article=1127&context=vet_papers&unstamped=1
dc.rights<p>This is the accepted version of the article which has been published in final form at <a href="http://dx.doi.org/10.1111/j.1365-2052.2005.01275.x">10.1111/j.1365-2052.2005.01275.x</a>.</p>
dc.source.beginpage265
dc.source.endpage266
dc.source.issue83
dc.source.issue3
dc.source.journalDepartmental Papers (Vet)
dc.source.journaltitleAnimal Genetics
dc.source.peerreviewedtrue
dc.source.statuspublished
dc.source.volume36
dc.subject.otherAnimal Diseases
dc.subject.otherCongenital, Hereditary, and Neonatal Diseases and Abnormalities
dc.subject.otherEye Diseases
dc.subject.otherMedical Genetics
dc.subject.otherOphthalmology
dc.subject.otherVeterinary Medicine
dc.titleCloning of Canine Galactokinase (GALK1) and Evaluation as a Candidate Gene for Hereditary Cataracts in Labrador Retrievers
dc.typeArticle
digcom.contributor.authorSidjanin, Duska J
digcom.contributor.authorMcElwee, John L
digcom.contributor.authorMiller, Brian
digcom.contributor.authorisAuthorOfPublication|email:gda@vet.upenn.edu|institution:University of Pennsylvania|Aguirre, Gustavo D
digcom.identifiervet_papers/83
digcom.identifier.contextkey6986686
digcom.identifier.submissionpathvet_papers/83
digcom.typearticle
dspace.entity.typePublication
person.identifier.orcid0000-0002-5228-256X
person.identifier.orcid0000-0002-5228-256X
relation.isAuthorOfPublication1a18ef39-6294-4816-a00d-fe4b64c3295a
relation.isAuthorOfPublication1a18ef39-6294-4816-a00d-fe4b64c3295a
relation.isAuthorOfPublication.latestForDiscovery1a18ef39-6294-4816-a00d-fe4b64c3295a
upenn.schoolDepartmentCenterDepartmental Papers (Vet)
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