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https://hdl.handle.net/2440/53875
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DC Field | Value | Language |
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dc.contributor.author | Craig, J. | - |
dc.contributor.author | Friend, K. | - |
dc.contributor.author | Gecz, J. | - |
dc.contributor.author | Rattray, K. | - |
dc.contributor.author | Trotski, M. | - |
dc.contributor.author | Mackey, D. | - |
dc.contributor.author | Burdon, K. | - |
dc.date.issued | 2008 | - |
dc.identifier.citation | Molecular Vision, 2008; 14(85-86):721-726 | - |
dc.identifier.issn | 1090-0535 | - |
dc.identifier.issn | 1090-0535 | - |
dc.identifier.uri | http://hdl.handle.net/2440/53875 | - |
dc.description.abstract | Purpose: This study aimed to map the genetic locus responsible for a novel X-linked congenital cataract phenotype. Methods: A large three-generation family with lamellar and nuclear cataract in five affected males was identified. Linkage analysis was conducted by genotyping X-chromosome specific microsatellite markers at an average spacing of 5 cM. Analysis was conducted using the LINKAGE package under an X-linked recessive model. Results: A linkage was detected on Xq24 with the maximum LOD score of 2.53 at θ=0 for DXS1001. The minimal region was defined as 11.5 Mb between markers DXS8055 and DXS8009 through critical recombination events in multiple individuals. Conclusions: A gene causing this novel congenital cataract phenotype is located on the long arm of the X chromosome. | - |
dc.description.statementofresponsibility | Jamie E. Craig, Kathryn L. Friend, Jozef Gecz, Kate M Rattray, Mark Troski, David A. Mackey and Kathryn P. Burdon | - |
dc.language.iso | en | - |
dc.publisher | Molecular Vision | - |
dc.source.uri | http://www.molvis.org/molvis/v14/a85/ | - |
dc.subject | Chromosomes, Human, X | - |
dc.subject | Tooth | - |
dc.subject | Humans | - |
dc.subject | Cataract | - |
dc.subject | Genetic Diseases, X-Linked | - |
dc.subject | Pedigree | - |
dc.subject | Lod Score | - |
dc.subject | Adolescent | - |
dc.subject | Child, Preschool | - |
dc.subject | Female | - |
dc.subject | Male | - |
dc.subject | Genes, X-Linked | - |
dc.title | A novel locus for X-linked congenital cataract on Xq24 | - |
dc.type | Journal article | - |
pubs.publication-status | Published | - |
dc.identifier.orcid | Gecz, J. [0000-0002-7884-6861] | - |
Appears in Collections: | Aurora harvest 5 Paediatrics publications |
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